NSO DERF

BORN ID	Data Element Name	Encounter
D0067	Determination ID	Newborn Screening Ontario (NSO), NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Unique number linked to test ID and result flag Pick List Value:
D0078	Parents/Health Care Provider informed of positive newborn screen result	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Have the parents or the infant's health care provider been informed of the positive newborn screen result Pick List Value:
D0078DATE	Parents/Health Care Provider informed of positive newborn screen result Date	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value:
D0131	Ascertainment of newborn screening missed cases	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The way by which an individual affected with an NSO targeted disease came to medical attention. Pick List Value: Symptoms, specify: Family history / Cascade testing Post mortem / coroner Case finding Other, specify:
D0131-01	Ascertainment symptoms	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The symptom(s) that lead to the diagnosis of a newborn screening target disease in an infant who was not ascertained by newborn screening Pick List Value:
D0131-02	Ascertainment other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The reason(s) that lead to the diagnosis of a newborn screening target disease in an infant who was not ascertained by newborn screening excluding family history, cascade testing, symptoms and post-mortem investigations. Pick List Value:
FAN1001	Genetic Testing Type (Maternal / Paternal)	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: See "Molecular Genetic Testing" & "Karyotype Genetic Testing" tabs Pick List Value:
MDERFMCACC	Missed case NSO_accession_num	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The NSO accession number as recorded on the symptomatic diagnosis report form Pick List Value:
MMMSS0091	Centre for Follow-Up Services	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Name of the clinical centre that provided follow-up counselling services following the disclosure of the maternal serum screen result. Pick List Value:
N0005	Birth Location	Birth Child, Labour & Birth Mother, Newborn Screening Ontario (NSO), NICU, NSO DERF, Postpartum Child, Postpartum Mother, HBHC Child
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Location where the birth occurred (hospital, home, other, etc.). Pick List Value: Hospital Home Birth Centre Clinic (Midwifery) Nursing Station Other Ontario location Outside of Ontario
NBS0013	Date of NSO target disease symptom onset	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Date of symptom onset for NSO target disease Pick List Value:
NBS0014	Date of Definitive Diagnosis	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Date of definitive diagnosis for the infant / child. This may differ from the date that the diagnosis was communicated to the family / health care provider. Pick List Value:
NBS0015	Parent Diagnosed Prior to Positive NSO Screen Flag	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates whether the mother was diagnosed prior to the positive newborn screen obtained for the infant. Pick List Value:
NBS0016	Date of infant retrieval for diagnostic evaluation after positive Newborn Screen	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: As reported by regional treatment centre, the date when the screen positive baby was located and diagnostic evaluation begun. Pick List Value:
NBS0017	Date of First Contact with Family / MD in regards to positive Newborn Screen	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: As reported by the treatment centre, the date of that provider or family made aware of positive newborn screen result Pick List Value:
NBS0018	Definitive diagnosis after diagnostic evaluation and follow up	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Diagnosis made in the infant / child (or mother) following clinical and / or diagnostic evaluations Pick List Value: Not Affected Not affected - Carrier Presumed carrier - Not confirmed in dx lab Presumed carrier - VUS 21-Hydroxylase Deficiency: Non-classical 21-Hydroxylase Deficiency: Salt Wasting 21-Hydroxylase Deficiency: Simple Virilizing 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency 3-MCC deficiency 3-Methylglutaconic aciduria Type 1 (3-methylglutaconyl-CoA hydratase deficiency) 3-Methylglutaconic aciduria Type 2 (Barth Syndrome) 3-Methylglutaconic aciduria Type 3 (Costeff optic atrophy) 3-Methylglutaconic aciduria Type 4 3-Methylglutaconic aciduria Type 5 (Dilated cardiomyopathy with ataxia) 3-Methylglutaconic aciduria Type 3 (Costeff optic atrophy) - Variant 3-Methylglutaconic aciduria Type 4 - Variant 3-Methylglutaconic aciduria Type 5 (Dialted cardiomyopathy w/ ataxia) - Variant 3-Methylglutaconic aciduria Type 2 (Bath Syndrome) - Variant 2-methyl-3hydroxybutyryl CoA dehydrogenase deficiency - Variant Holocarboxylase synthase deficiency - Variant 3-Methylglutaconic aciduria Type 1 (3-methylglutaconyl-CoA hyratase deficiency) - Variant 3-MCC deficiency - Variant Maternal mitochondrial dysfunction CPT2 deficiency - Variant HMGCoA Lyase Deficiency - Variant Beta-kethothiolase deficiency - Variant ASA lyase deficiency Beta-ketothiolase deficiency Biotinidase deficiency Carnitine transporter defect Maternal carnitine deficiency Maternal MCADD Carnitine transporter defect - Variant CBS deficiency Classical PKU (Phe >= 1200) CH Apparent Athyreosis CH Athyreosis Moderate PKU (Phe 900-1199) Mild PKU (Phe 600-899) CH Dyshormonogensis CH Ectopic CH Hypoplastic Mild hyperphenylalaninemia (gray zone) (Phe 360-599) Mild hyperphenylalaninemia (benign) (Phe 120-359) Other known cause of TSH elevation, specify: Iodine exposure DHPR Deficiency GTP Cyclohydrolase Deficiency Maternal Disease: Maternal PTU/Graves Disease Prematurity PCD Deficiency Maternal Disease: Thyroid blocking antibodies SR Deficiency SR Deficiency - Variant PTPS Deficiency - Variant GTP Cyclohydrolase Deficiency - Variant PCD Deficiency - Variant DHPR - Variant Maternal PKU PTPS Deficiency CH Undetermined: Presumed Dysgenesis or Dyshormonogenesis Transient TSH elevation CH Idiopathic: Overt (TSH < 30) CH Idiopathic: Compensated (TSH >= 30) Central Hypothyroidism CH Idiopathic: Overt (TSH >= 30) CH Idiopathic: Compensated (TSH < 30) Citrullinemia (ASA synthetase deficiency) Citrullinemia Type II (Citrin deficiency) Classical Galactosemia Cobalamin A Cobalamin B Cobalamin C - Variant Cobalamin D - Variant Methylmalonyl CoA Mutase deficiency (B12 responsive) - Variant Propionic acidemia - Variant Methylmalonyl CoA Mutase deficiency - Variant Cobalamin A - Variant Cobalamin B - Variant Cobalamin C Cobalamin D CPT1 deficiency CPT1 deficiency - Inuit Variant CPT2 deficiency Cystathioninemia Cystic Fibrosis E3 deficiency E3 Deficiency - Variant Glutaric Aciduria Type I Glutaric Aciduria Type I low excretor Glutaric Aciduria Type II Glycine N-Methyltransferase Deficiency HMGCoA Lyase Deficiency Holocarboxylase synthase deficiency Isovaleric acidemia LCHAD deficiency Maternal 3-MCC deficiency Maternal biotin deficiency Maternal carnitine transporter defect Maternal other (Specify:) Maternal Vitamin B12 deficiency Methionine Adenosyltransferase Deficiency Methylmalonyl CoA mutase deficiency Methylmalonyl CoA mutase deficiency (B12 responsive) LCHAD deficiency - Variant Mitochondrial trifunctional protein deficiency - Variant CACT - Variant Glutaric Aciduria Type II - Variant Mitochondrial trifunctional protein deficiency MSUD Partial Biotinidase Deficiency Profound Biotinidase Deficiency Propionic acidemia S-Adenosylhomocysteine Hydrolase SAM transferase deficiency S-Beta thalassemia SC disease Secondary carnitine deficiency SS disease Transient Tyrosinemia Type 1 Tyrosinemia (FAH deficiency) Type 2 Tyrosinemia (TAT deficiency) Type 3 Tyrosinemia - Variant Type 3 Tyrosinemia Type 1 Tyrosinemia (FAH deficiency) - Variant Type 2 Tyrosinemia (TAT deficiency) - Variant VLCAD deficiency - Classical VLCAD deficiency - Variant SCID CID requiring intervention Syndrome with T-cell impairment Syndrome with T-cell impairment \ 22q11.2 deletion syndrome Syndrome with T-cell impairment \ CHARGE syndrome Syndrome with T-cell impairment \ Ataxia telangiectasia Syndrome with T-cell impairment \ Other, specify: T-cell lymphopenia T-cell lymphopenia \ Idiopathic T-cell lymphopenia \ Lymphangiectasia T-cell lymphopenia \ Post thymectomy T-cell lymphopenia \ Immunosuppressive medications, infant T-cell lymphopenia \ Immunosuppressive medications, maternal T-cell lymphopenia \ Medically unstable / perinatal stressors T-cell lymphopenia \ Other, specify: Other, specify: 11-Beta Hydroxylase Deficiency 3-beta dehydrogenase deficiency 3-beta dehydrogenase deficiency - Variant 11-Beta Hydroxylase Deficiency - Variant Alpha globin variant(s) Beta and alpha globin variant(s) Beta globin variant(s) Beta thalassemia (ex: beta0) Beta+ thalassemia C Carrier CACT C-beta thalassemia C-beta+ thalassemia CC disease CF Indeterminate: borderline sweat (+/- genotype) CF Indeterminate: genotype/normal sweat Cobalamin E Cobalamin F Cobalamin G CPTII (myopathic) CPTII (neonatal/infantile) D Carrier DD Variant E Carrier E-beta thalassemia E-beta+ thalassemia EE Gamma globin variant GD Variant Hb H disease HbS/HPFH Ghana deletion HPFH IVA variant Liver Disease MCAD deficiency - Classical MCAD deficiency - Variant MSUD variant Persistent lab abnormalities Pyridoxine responsive CBS deficiency S-Adenoslhomocysteine Hydrolase - Variant Methionine Adenosyltransferase Deficiency - Variant Glycine N-Methyltransferase Deficiency - Variant ASA lysase deficiency - Variant CBS Deficiency - Variant Citrullinemia Type II (Citrin deficiency) - Variant Pyridoxine responsive CBS deficiency - Variant Cystathioninemia - Variant SAM transferase deficiency - Variant Citrullinemia (ASA synthetase deficiency) - Variant S Carrier SD disease SE disease TCII deficiency Variant hemoglobin - no alpha/beta gene variants detected Vitamin B12 deficiency SCID \ X-linked SCID SCID \ ADA Deficiency SCID \ IL7R SCID \ JAK 3 SCID \ PNP SCID \ RAG 1 SCID \ RAG 2 SCID \ CD3D SCID \ CD3E SCID \ CD247 (CD3 zeta) SCID \ DCLRE1C SCID \ AK2 SCID \ NHEJ1 SCID \ LIG4 SCID \ RAC2 SCID \ PTPRC SCID \ PRKDC SCID \ CARD 11 SCID \ SCID- no identified mutation SCID \ Other: Specify CID requiring intervention \ ZAP70 CID requiring intervention \ RMRP CID requiring intervention \ CID - no identified mutation CID requiring intervention \ Other: Specify
NBS0018-02	Definitive diagnosis, other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The diagnosis made in the infant / child (or mother) after investigations following a positive newborn screen when a definitive diagnosis is not available from the pick list. Pick List Value:
NBS0018-03	Definitive diagnosis CH FIXED, other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The specific reason that an infant with a positive newborn screen for congenital hypothyroidism was diagnosed with FIXED CH that is not athyrotic, ectopic, idiopathic, subclinical or related to dyshormonogenesis Pick List Value:
NBS0018-04	Definitive diagnosis CH TRANSIENT, other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The specific reason that an infant with a positive newborn screen for congenital hypothyroidism was diagnosed with TRANSIENT CH that is not athyrotic, ectopic, idiopathic, subclinical or related to dyshormonogenesis Pick List Value:
NBS0030	Total Number of siblings of affected newborn screen positive child	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Total number of full siblings to the infant / child. Pick List Value: Unknown 0 1 2 3 4 5 6 7 8 9 10 >10
NBS0031	Total Number of affected siblings of affected newborn screen positive child	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Number of full siblings to the infant / child who are affected with the disease in question. Pick List Value: Unknown 0 1 2 3 4 5 6 7 8 9 10 >10
NBS0032	Other affected family members of affected newborn screen positive child	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Other family members of the infant / child who are affected with the disease in question. Specify relationship. Pick List Value: Mother Father Aunt, Maternal Aunt, Paternal Uncle, Maternal Uncle, Paternal Cousin, Maternal Cousin, Paternal Niece, Maternal Niece, Paternal Nephew, Maternal Nephew, Paternal Grandfather, Maternal Grandfather, Paternal Grandmother, Maternal Grandmother, Paternal Maternal half-sibling Paternal half-sibling Other, specify:
NBS0032-01	Affected family member, other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The relationship of the affected family member to the newborn screen positive infant (DERF) or the affected infant (SDRF) Pick List Value:
NBS0033	NSO Accession Number	Newborn Screening Ontario (NSO), NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Unique NSO identifier assigned at the time of NSO Accessioning. Pick List Value:
NBS0038	Disposition after diagnostic evaluation and follow up	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: After clinical and / or diagnostic evaluations are completed, the decision to discharge, continue to follow without treatment or initiate treatment as indicated by regional treatment centre. Pick List Value: Continue to follow with no treatment Discharge Initiate Treatment Refer to the Canadian Centre for Primary Immunodeficiency
NBS0038-01	Disposition rationale	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Comments regarding the disposition. If 'continue to follow without treatment' is selected, please specify reason(s) / rationale. Pick List Value:
NBS0039	Date of Disposition	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Date disposition decision made Pick List Value:
NBS0039-2	Disposition - Date treatment initiated (RTC)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Disposition - Date treatment initiated (RTC) Pick List Value:
NBS0039-3	Disposition - Was treatment stopped (RTC)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Disposition - Was treatment stopped (RTC) Pick List Value:
NBS0039-4	Disposition - Date treatment stopped (RTC)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Disposition - Date treatment stopped Pick List Value:
NBS0039-5	Disposition - Was treatment ever initiated (CCPID)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Disposition - Was treatment ever initiated (CCPID) Pick List Value:
NBS0039-6	Disposition - Date treatment initiated (CCPID)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Disposition - Date treatment initiated (CCPID) Pick List Value:
NBS0039-7	Disposition - Was treatment stopped (CCPID)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Disposition - Was treatment stopped (CCPID) Pick List Value:
NBS0039-8	Disposition - Date treatment stopped (CCPID)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Disposition - Date treatment stopped (CCPID) Pick List Value:
NBS0041	Number of siblings of affected prior to diagnosis of newborn screen positive child	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Number of affected full siblings to the screen positive child who diagnosed prior to the current screen positive Pick List Value: Unknown 0 1 2 3 4 5 6 7 8 9 10 >10
NBS0042	Number of siblings of affected after diagnosis of newborn screen positive child	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Number of affected full siblings to the screen positive child who diagnosed after the current screen positive Pick List Value: Unknown 0 1 2 3 4 5 6 7 8 9 10 >10
NBS0043	Carrier Testing Offered	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Specify whether the baby's parents were offered carrier testing and the subsequent action Pick List Value: Yes, testing performed Yes, will consider Yes, declined Not offered
NBS0044	Carrier Testing Not Offered Reason	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Reason why the parents were not offered carrier testing Pick List Value: Previously done Baby adopted or CAS Other, specify reason
NBS0045	Carrier Testing Not Offered Reason - Other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Specifics for why the parents were not offered carrier testing Pick List Value:
NBS0108	Total Number of deceased sibs of affected newborn screen positive child	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Number of full siblings to the infant / child that are deceased. Pick List Value: Unknown 0 1 2 3 4 5 6 7 8 9 10 >10
NBS0109	Comments in regards to definitive diagnosis	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding the newborn's definitive diagnosis made after a positive newborn screen (DERF) or regarding an infant affected with an NSO target disorder not ascertained by newborn screening (SDRF) Pick List Value:
NBS0110	Diagnosis prior to retrieval of patient	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates that the infant was diagnosed with the disease for which they screened positive prior to being retrieved for diagnostic evaluation Pick List Value:
NBS0111	Health of screen positive infant at retrieval	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: What was the infant's health at the time they were located for diagnostic evaluation after a positive newborn screen Pick List Value: Well Unwell, specify: Deceased, specify date and cause
NBS0111-01	Unwell at retrieval	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The symptom(s) and / or reason(s) the screen positive infant was unwell at the time of retrieval Pick List Value:
NBS0111-02	Date of death	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The date the infant / child died. Pick List Value:
NBS0111-03	Cause of death	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The cause of death for the infant who had a positive newborn screen (DERF) or the infant affected with an NSO target disorder not ascertained by newborn screening (SDRF) Pick List Value:
NBS0113	Newborn screen positive infant's name if different at diagnostic testing	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Newborn screen positive infant's name at diagnostic testing. Only captured if newborn's name is different than Newborn Name - Family Name (N0001) Pick List Value:
NBS0114	Newborn screen positive infant's health care provider at diagnostic testing	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Newborn screen positive infant's primary health care provider at the time of retrieval and / or diagnostic testing. Pick List Value:
NBS0120	Newborn Screen Positive Infant Symptomatic of (screen positive disease name)	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether the infant had symptoms that could be attributed to the disease they were screen positive for at the time of retrieval Pick List Value:
NBS0121	NSO Gaining Weight	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether an infant with a positive newborn screen was gaining weight at the time of retrieval for diagnostic evaluation Pick List Value:
NBS0122	Newborn Screen Positive Infant Hospitalized due to (screen positive disease name)	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether an infant with a positive newborn screen was hospitalized at the time of retrieval for diagnostic evaluation Pick List Value:
NBS0123	NSO Meconium Ileus (CF)	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether the infant with a newborn screen positive for cystic fibrosis was born with meconium ileus, noted at the time of retrieval for diagnostic evaluation Pick List Value:
NBS0124	NSO Cough or Wheeze (CF)	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether the infant with a newborn screen positive for cystic fibrosis had a cough or wheeze at the time of retrieval for diagnostic evaluation Pick List Value:
NBS0125	Newborn Screen Positive Infant Virilised	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether the infant with a newborn screen positive for congenital adrenal hyperplasia was virilised at birth, noted at the time of retrieval for diagnostic evaluation Pick List Value:
NBS0126	NSO Maternal Steroids	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether the mother of an infant with a newborn screen positive for congenital adrenal hyperplasia was given steroids at any time during her pregnancy, noted at the time of retrieval for diagnostic evaluation Pick List Value:
NBS0127	DERF completed by	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The name of the regional treatment centre health care professional who completed the newborn screen positive infant's DERF / SDRF Pick List Value: ALABDOULSALAM, DR. TAREQ (Children's Hospital of Winnipeg) ANDRIGHETTI, HEATHER (Hamilton Health Sciences) ATHALE, DR. UMA (Hamilton Health Sciences Centre) BABIC, DR. BOJANA (Hamilton Health Sciences Centre) BELANGER, BRIGITTE (Children's Hospital of Eastern Ontario) BELEGRIS, CATHY ((London Health Sciences Centre - Pediatric Endocrinology) BELL, SHANNON (Kingston Health Sciences Centre) BENOIT, CAROLINE (Children’s Hospital of Eastern Ontario) BERES, LORRIE - GC (Hamilton Health Sciences Centre) BOILEAU, CORALEE (CHILDREN'S HOSPITAL OF EASTERN ONTARIO) BOLAND, DR. MARGARET PATRICIA (Children's Hospital of Eastern Ontario) BRAGER, RAE (Hamilton Health Sciences) BRICK, LAUREN - GC (Hamilton Health Sciences Centre) CARPENTER, REBECCA (McMaster Children's Hospital) CHAGNON, JULIA (McMaster Children's Hospital) CHAKRABORTY, DR. PRANESH (Children's Hospital of Eastern Ontario) CLARSON, DR. CHERIL LINDA (London Health Sciences Centre - Endocrinology) COLAICOVO, SAMANTHA (London Health Sciences Centre - Genetics) COOK, CINDY (Children’s Hospital of Eastern Ontario) COSTANTINI, SHARON (Children’s Hospital of Eastern Ontario) COWING, GINA (McMaster Children's Hospital) CRUZ, Vivian (Hospital for Sick Children) DALE, BREANNE (Hamilton Health Sciences Centre) DAVIES, CHRISTINE - GC (Children's Hospital of Eastern Ontario) DEAN, HEATHER DIRAIMO, JENNIFER (London Health Sciences Centre - Genetics) DOLA, ERIN DUFFY, LAURA (McMaster Children's Hospital) EFFA, ANGELA EJAZ, DR. RESHAM FERNANDEZ, SARA (Children's Hospital of Eastern Ontario) FRASER, Meghan (Hospital for Sick Children) GALL, KIM - GC (Children's Hospital of Eastern Ontario) GALLAGHER, LAUREN (Children's Hospital of Eastern Ontario) GALLEGO, DR. P (London Health Sciences Centre - Endocrinology) GERAGHTY, DR. MICHAEL (Children's Hospital of Eastern Ontario) GIGNAC, MARIEVE (Children's Hospital Of Eastern Ontario) GLODEANU, MIHAELA (Children's Hospital of Eastern Ontario) GOOBIE, DR. SHARAN LYNN (London Health Sciences Centre - Genetics) GRASEMANN, HARTMUT (Hospital for Sick Children) GUILDER, DR. LAURA (Hospital for Sick Children) HADJIYANNAKIS, DR. ANASTASIA (Children's Hospital of Eastern Ontario) HAYLOR, JANA (London Health Sciences Centre) HAMILTON, DR. JILL KRYSTI (Hospital for Sick Children) Hartley, Jessica HEWSON, STACY (Hospital for Sick Children) HENDERSON, NATALIE HIGGINS, LAUREN HO, STEPHANIE (London Health Sciences Centre - Genetics) JARDINE, DR. Lawrence (London Health Sciences Centre - Genetics) JOHNSON, KIRSTI (Hospital for Sick Children) JUSKEY, LIA (RN) KIRBY, DR. MELANIE-ANN (Hospital for Sick Children) KIROUAC, Nicole KLAASSEN, DR. ROBERT JOHN (Children's Hospital of Eastern Ontario) KOVESI, DR. THOMAS ANDREW (Children's Hospital of Eastern Ontario) KOZENKO, DR. MARIYA (Hamilton Health Sciences Centre) KRONICK, DR. JONATHAN (Metabolics) LAM, DR. CAROL (Hospital for Sick Children) LANGDON, KRISTEN (London Health Sciences Centre) ROADHOUSE, CHELSEA (Hamilton Health Sciences Centre) LAWRENCE, DR. SARAH ELIZABETH (Children's Hospital of Eastern Ontario) WATTS-DICKENS, ABBY (Hospital for Sick Children) LEPPINGTON, SARAH (Children's Hospital of Western Ontario) LESCADRE, TAMMY ((London Health Sciences Centre - Pediatric Endocrinology) LI, DR. CHUMEI (Hamilton Health Sciences Centre) LOCKYER, LINDSAY (The Hospital for Sick Children) LOOMER-VANDERSLUIS, MADELINE (Hamilton Health Sciences Centre) MACKENZIE, DR. JENNIFER JANE (Kingston General Hospital) Mahin, Vanessa (London Health Sciences Centre) MAHMUD, DR. FARID HUSSAIN (Hospital for Sick Children) MAHMUTOGLU, DR. SAADET (Metabolics) MARCADIER, JANET - GC (Children's Hospital of Eastern Ontario) MAYO, Jane McASSEY, DR. KAREN LYNN (Hamilton Health Sciences Centre) MCKAYRN, ANNA MCNIVEN, DR. VANDA (Hamilton Health Sciences Centre) MCGREGOR, ANGELA (Kingston) McSHANE, HOLLY (RN - Hotel Dieu Hospital) MHANNI, DR AZIZ (WRHA Genetics & Metabolism Program) MORAR, OANA (London Health Sciences Centre - Genetics) NAPIER, MELANIE (London Health Sciences Centre - Genetics) NORI, KELLY (Hamilton Health Sciences Centre) NOWACZYK, DR. MALGORZATA JOANNA (Hamilton Health Sciences Centre) ODAME, DR. ISAAC (Hospital for Sick Children) MUCHANTEF, KIM (Children’s Hospital of Eastern Ontario) PALMERT, DR. MARK RANEY (Hospital for Sick Children) PARADISO, CHRISTINA - GC (Hamilton Health Sciences Centre) PASTERKAMP, DR. HANS (CHILDREN'S HOSPITAL OF WINNIPEG) PEDDER, DR. LINDA (Hamilton Health Sciences Centre) PEREIRA, MYRA (Hospital for Sick Kids) PERLMAN, DR. KUSIEL (Hospital for Sick Children) PIRES, LINDA (Canadian Centre for Primary Immunodeficiency) POTTER, DR. MURRAY ALEXANDER (Hamilton Health Sciences Centre) PRASAD, DR. CHITRA (London Health Sciences Centre - Genetics) PRICE, DR. APRIL KATHERINE (London Health Sciences Centre - Genetics) RAIMAN, DR. JULIAN ANDREW JONATHON (Hospital for Sick Children) RATJEN, DR. FELIX ALEXANDER (Hospital for Sick Children) REID, BRENDA (Canadian Centre for Primary Immunodeficiency) ROCKMAN-GREENBERG, DR. CHERYL (WRHA Genetics & Metabolism Program) RYBANSKY, SUSAN (London Health Sciences Centre - Genetics) SALEH, DR.DAVID (Kingston General Hospital) SAMAAN, DR. CONSTANTINE (Hamilton Health Sciences Centre) ROBART, SARAH (Hospital for Sick Children) SCHULZE, DR. ANDREAS (Hospital for Sick Children) SELLERS, ELIZABETH SHAVER, JENNIFER (Kingston General Hospital) SHURRAB, DR. SHAYMAA (McMaster Children's Hospital) SILVA, DR. MARIANA (Kingston General Hospital) SIRIWARDENA, DR. KOMUDI PULSARA (Hospital for Sick Children) SOCHETT, ETIENNE (Hospital for Sick Children) SOLOMON, MELINDA (Hospital for Sick Children) SOTTOSANTI, DR. M (London Health Sciences Centre - Endocrinology) STEIN, DR. ROBERT IAN (London Health Sciences Centre - Endocrinology) SVELA, YULIA (Hospital for Sick Children) TAM, KAREN (Hospital for Sick Children) TAZBAZ, TANYA - RN (Hospital for Sick Children) Thibert, Anna(WRHA Respirology) URBACH, DR. STACEY LISA (Hospital for Sick Children) VAN WYLICK, DR. RICHARD CECIL (Kingston General Hospital) VANDERMEULEN, DR. JOHN AUGUST (Hamilton Health Sciences Centre) WAGLER, STEOHANIE - GC (Hamilton Health Sciences Centre) WASSERMAN, DR. JONATHAN (Metabolics) WHERRETT, DR. DIANE KATHERINE (Hospital for Sick Children) WICKLOW, BRANDY ZELENIETZ, SARI - GC (Children's Hospital of Eastern Ontario) Zingerat, Sharri-Lynne (Sudbury CF Clinic) TELLIER, ISABELLE (CHU St Justine) LEVASSEUR, MICHELE (Children’s Hospital of Eastern Ontario) BRUNEL-GUITTON, DR.CATHARINE (CHE Sainte Justine, Medical Genetics) MAZUR, Katherine (Hamilton Health Sciences) Mol, Jarmila RN ( Hospital for Sick Children) Brittney Johnstone (Hospital for Sick Children) Sabrina Bhathal (Hospital for Sick Children) ANDRIGHETTI, HEATHER (London Health Sciences Centre) Quann, Stephanie (Kingston Health Sciences Centre) YANG, NICOLE (The Hospital for Sick Children) Other, specify
NBS0128	Date DERF completed	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The date on which the DERF or SDRF was confirmed to be submitted to BORN by the regional treatment centre. This data element is derived based on the date the DERF / SDRF is confirmed to be submitted to BORN. Pick List Value:
NBS0129	Regional Treatment Centre Responsible Physician	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: The name of the physician at the Regional Treatment Centre who was / is responsible for the care of the infant / child Pick List Value: ALABDOULSALAM, DR. TAREQ (Children's Hospital of Winnipeg) ALJOUDA, DR. LIALI (Hospital for Sick Children) ATHALE, DR. UMA (Hamilton Health Sciences Centre) BABALOLA, DR. FUNMBI (London Health Sciences Centre) BABIC, DR. BOJANA (Hamilton Health Sciences Centre) Brager, Dr.Rae HHSC paediatric immunologist BOLAND, DR. MARGARET PATRICIA (Children's Hospital of Eastern Ontario) BORICI-MAZI, DR. CHAKRABORTY, DR. PRANESH (Children's Hospital of Eastern Ontario) CLARSON, DR. CHERIL LINDA (London Health Sciences Centre - Endocrinology) DEAN, HEATHER DENT, DR. PETER Derynck, DR. Michael (Kingston Health Sciences Centre - Pediatric Respirologist) DUA, DR. MEAGHNA (McMaster Children's Hospital) Ejaz, Dr. Resham(Hamilton Health Sciences Centre) EJAZ, DR. RESHAM (McMaster Children's Hospital) ENS, DR. ANDREA (London Health Sciences Centre) ELLIS, DR ANNE GALLEGO, DR. P (London Health Sciences Centre - Endocrinology) GEDDIE, DR. HANNAH (McMaster Children's Hospital) GEERLINKS, DR. ASHLEY (London Health Sciences Center) GERAGHTY, DR. MICHAEL (Children's Hospital of Eastern Ontario) GOOBIE, DR. SHARAN LYNN (London Health Sciences Centre - Genetics) GRAKABY, DR. JENNY (McMaster Children's Hospital) GRASEMANN, HARTMUT (Hospital for Sick Children) GUILDER, DR. Laura (Hospital for Sick Children) HADJIYANNAKIS, DR. ANASTASIA (Children's Hospital of Eastern Ontario) HAMILTON, DR. JILL KRYSTI (Hospital for Sick Children) INBAR-FEIGENBERG, DR. MICHAL (Hospital for Sick Children) JARDINE, DR. Lawrence (London Health Sciences Centre - Genetics) JUSKEY, LIA (Hospital for Sick Children) Julia Catherine, Dr. Sorbara (The Hospital for Sick Children) Karp, Dr. Natalya (London Health Sciences Center Khatchadourian, Dr. Karine (Children's Hospital of Eastern Ontario) KIRBY, DR. MELANIE-ANN (Hospital for Sick Children) KLAASSEN, DR. ROBERT JOHN (Children's Hospital of Eastern Ontario) KOVESI, DR. THOMAS ANDREW (Children's Hospital of Eastern Ontario) KOZENKO, DR. MARIYA (Hamilton Health Sciences Centre) KRONICK, DR. JONATHAN (Hospital for Sick Children) LAM, DR. CAROL (Hospital for Sick Children) LAPIERRE, DR. JEAN GUY (CHU St Justine) LAWRENCE, DR. SARAH ELIZABETH (Children's Hospital of Eastern Ontario) LI, DR. CHUMEI (Hamilton Health Sciences Centre) MACKENZIE, DR. JENNIFER JANE (Kingston General Hospital) MACKENZIE, DR. JENNIFER (Hamilton Health Sciences Centre) MAHMUD, DR. FARID HUSSAIN (Hospital for Sick Children) MAHMUTOGLU, DR. SAADET (Hospital for Sick Children) MAZZA, DR. J. McASSEY, DR. KAREN LYNN (Hamilton Health Sciences Centre) MCNIVEN, DR. VANDA (Hamilton Health Sciences Centre) MHANNI, DR AZIZ (WRHA Genetics & Metabolism Program) MOOTE, DR. B. NORDLUND, DR SAMANTHA (McMaster Children's Hospital) NOWACZYK, DR. MALGORZATA JOANNA (Hamilton Health Sciences Centre) ODAME, DR. ISAAC (Hospital for Sick Children) OEI, DR. KRISTA (Hospital for Sick Children) PALMERT, DR. MARK RANEY (Hospital for Sick Children) PASTERKAMP, DR. HANS (CHILDREN'S HOSPITAL OF WINNIPEG) PEDDER, DR. LINDA (Hamilton Health Sciences Centre) PERLMAN, DR. KUSIEL (Hospital for Sick Children) PHAM-HUY, DR. ANNE (CHEO Infectious Diseases) POTTER, DR. MURRAY ALEXANDER (Hamilton Health Sciences Centre) PRASAD, DR. CHITRA (London Health Sciences Centre - Genetics) PRICE, DR. APRIL KATHERINE (London Health Sciences Centre - Genetics) RAIMAN, DR. JULIAN ANDREW JONATHON (Hospital for Sick Children) RATJEN, DR. FELIX ALEXANDER (Hospital for Sick Children) SALEH, DR. MAHA (London Health Sciences Centre) ROIFMAN, DR. CHAIM ROCKMAN-GREENBERG, DR. CHERYL (WRHA Genetics & Metabolism Program) SALEH, DR.DAVID (Kingston General Hospital) SAMAAN, DR. CONSTANTINE (Hamilton Health Sciences Centre) SCHULZE, DR. ANDREAS (Hospital for Sick Children) SELLERS, ELIZABETH SHURRAB, DR. SHAYMAA(McMaster Children's Hospital) SILVA, DR. MARIANA (Kingston General Hospital) SIRIWARDENA, DR. KOMUDI PULSARA (Hospital for Sick Children) SIU, DR. V. SOCHETT, ETIENNE (Hospital for Sick Children) SOLOMON, MELINDA (Hospital for Sick Children) SOTTOSANTI, DR. M (London Health Sciences Centre - Endocrinology) Soumitra , Dr. Tole, (London Health Sciences Centre) STEIN, DR. ROBERT IAN (London Health Sciences Centre - Endocrinology) TENEDERO, DR CHRISTINE (McMaster Children's Hospital URBACH, DR. STACEY LISA (Hospital for Sick Children) VAN WYLICK, DR. RICHARD CECIL (Kingston General Hospital) VANDERMEULEN, DR. JOHN AUGUST (Hamilton Health Sciences Centre) WASSERMAN, DR. JONATHAN (Hospital for Sick Children) WHERRETT, DR. DIANE KATHERINE (Hospital for Sick Children) WICKLOW, BRANDY BASSILIOUS, DR. ERENY (McMaster Children's Hospital) SIMPSON, EWURABENA (Children’s Hospital of Eastern Ontario) REISMAN, JOE (Children’s Hospital of Eastern Ontario) BERUBE, DR. DENIS (CHU St Justine) FROSK, DR. PATRICK (WRHA Genetics & Metabolism Program) Iqbal, Shaikh Mohammed (Children’s Hospital of Winnipeg) WALIA, DR.JAGDEEP (Kingston General Hospital) Kumar, Dr. Gautam (Sudbury CF Clinic) Al-Somali, Dr. Faisal (WRHA Respirology) Marcotte, Dr. Jacques (CHU St Justine) BRUNEL-GUITTON, DR.CATHARINE (CHE Sainte Justine, Medical Genetics) Guerin, Dr.Andrea (Kingston General Hosptial) COHN, Dr. RONALD (The Hospital for Sick Children) Sondheimer, Dr. Neal (The Hospital for Sick Children) Rusnak, Dr. Allison (Kingston General Hospital) HARRINGTON, DR. JENNIFER JEAN (Hospital for Sick Children) SHULMAN, DR. RAYZEL MALKA (Hospital for Sick Children) Badalato, Dr. Lauren ( Kingston Health Sciences Centre) YU, Dr. ANDREA C (Children's Hospital of Eastern Ontario) Wheaton, Dr. Laura (Kingston Health Sciences Centre) BOURQUE, DR. DANIELLE (Children's Hospital of Eastern Ontario)
NBS0134	NSO STFU Follow-Up Diagnostic Analyte Unit of Measure	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The unit of measure of the diagnostic analyte or profile analytes Pick List Value:
NBS0135	NSO STFU Follow-Up Diagnostic Analyte Ref Range Upper	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The upper limit of the reference range for the diagnostic analyte or profile analytes Pick List Value:
NBS0136	NSO STFU Follow-Up Diagnostic Analyte Ref Range Lower	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The lower limit of the reference range for the diagnostic analyte or profile analytes Pick List Value:
NBS0137	NSO STFU Follow-Up Profile Date	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The date on which the diagnostic evaluations and investigations were performed Pick List Value:
NBS0138	NSO STFU Follow-Up Profile Comment	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding the diagnostic investigations and / or evaluations Pick List Value:
NBS0139	Age of Symptom Onset	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Age of symptom onset Pick List Value:
NBS0140	NSO Treatment Initiated (RTC)	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Treatment initiated on the infant after the diagnosis (RTC) Pick List Value: BMT PEG-ADA Gene Therapy Other, specify:
NBS0140CCPID	NSO Treatment Initiated (CCPID)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Treatment initiated on the infant after the diagnosis (CCPID) Pick List Value: BMT PEG-ADA Gene Therapy Other, specify:
NBS0141	NSO Treatment Initiated - Other (RTC)	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Other treatment initiated on the infant after the diagnosis. Pick List Value:
NBS0141CCPID	NSO Treatment Initiated - Other (CCPID)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Other treatment initiated on the infant after the diagnosis (CCPID) Pick List Value:
NBS0142	NSO Diagnosis Made Prenatally Flag	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates if the diagnosis was made prenatally or postnatally. Pick List Value:
NBS0143	Diagnosis Made Outside of Regional Treatment Centre Flag	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates if the diagnoses was made outside of a Regional Treatment Centre. If so, please enter the SRDF Completed by and Responsible Physician boxes. Pick List Value:
NBS0145	Biopterin Response Comment	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Biopterin Response Comment Pick List Value:
NDERF0123	Reason infant not retrieved	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates the reason(s) that an infant has not been retrieved at the time Retrieval Confirmation Information is submitted to BORN Pick List Value: Triaged Awaiting call back from parents Incorrect contact information No contact information for primary health care provider Family has moved Phone number out of service Awaiting call back from primary health care provider Unable to contact health care provider Infant is deceased Transferred to another treatment centre Incorrect health care provider listed No voice mail to leave message Registered mail undeliverable CAS involved to help locate Family / parents out of country Appointment pending Other No health care provider indicated Parents contacted directly No contact information for family
NDERF0123O	Reason infant not retrieved - Other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The reason that an infant has not been retrieved at the time Retrieval Confirmation Information is submitted to BORN not represented in the pick list. Pick List Value:
NDERF02324	No follow up diagnostic testing initiated	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates that no diagnostic testing was initiated in follow up to a infant / child's referral to a Regional Treatment Centre from Newborn Screening Ontario Pick List Value: After clinical evaluation by specialist physician completed, diagnostic testing deemed unnecessary Parents declined – previous child had a positive screen and normal diagnostic testing Parents declined – current child had a negative screen in addition to a positive screen Parents refused Infant deceased Other
NDERF02324OTHER	No follow up diagnostic testing initiated Other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication that the reason that no follow up diagnostic testing was initiated is not captured by the values presented in the pick list Pick List Value:
NDERF02325	Screen Positive Comments	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Pick List Value:
NDERF4512	Initial Diagnosis	NSO DERF
Data Definition: Diagnosis based on initial diagnostic investigations Pick List Value:
NDERF4513	Date of Initial Diagnosis	NSO DERF
Data Definition: Date an initial diagnosis is made Pick List Value:
NDERFANALYG	Analyte Gene	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The gene that was interrogated as part of the infant / child's diagnostic investigations Pick List Value: IL2RG (X-Linked SCID) ADA (Adenosine Deaminase Deficiency) IL7R (AR SCID) JAK3 (AR SCID) PNP (Purine nucleoside phosphorylase deficiency) RAG1 (AR SCID) RAG2 (AR SCID) CD3D (AR SCID) CD3E (AR SCID) CD247 (CD3-zeta defect) DCLRE1C (Omenn syndrome) AK2 (SCID with leukopenia) NHEJ1 (SCID) LIG4 (SCID) RAC2 (neutrophil deficiency syndrome) PTPRC (PTPRC-related SCID) ZAP70 (ZAP70-related SCID) RMRP (Cartilage-Hair hypoplasia) ACADM (Medium-chain acyl-CoA dehydrogenase) ACADVL (Very long chain acyl-CoA dehydrogenase) ACAT1 (acetoacetyl 1-Co A-thiolase) AHCY (S-adenosylhomocysteine hydrolase) ASL (Argininosuccinate lyase) ASS1 (Argininosuccinate synthetase) AUH (AU RNA binding protein/enoyl-Coenzyme A hydratase) BCKDHA (Branched chain keto acid dehydrogenase E1, alpha polypeptide) BCKDHB (Branched chain keto acid dehydrogenase E1, beta polypeptide) BTD (Biotinidase) CBS (Cystathionine beta synthase) CFTR (Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) ABCC7) CPT1A (Carnitine Palmitoyltransferase I, liver) CPT2 (Carnitine Palmitoyltransferase 2) CTH (Cystathionase (cystathionine gamma-lyase) ) CYP21A2 (Cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2) DBT (Dihydrolipoamide branched chain transacylase E2) DLD (Dihydrolipoamide Dehydrogenase) DNAJC19 (Dnaj (hsp40) homologue, subfamily c, member 19) DUOX2 (Dual oxidase 2) ETFA (Electron-transfer-flavoprotein, alpha polypeptide) ETFB (Electron-transfer-flavoprotein, beta polypeptide) ETFDH (Electron-transferring-flavoprotein dehydrogenase) FAH (fumarylacetoacetate hydrolase (fumarylacetoacetase) ) GALT (Galactose-1-phosphate uridyl transferase) GCDH (Glutaryl-CoA Dehydrogenase) GCH1 (GTP Cyclohydrolase I) GNMT (Glycine N-methyltransferase) HADHA (Mitochondrial trifunctional protein, alpha subunit) HADHB (Mitochondrial trifunctional protein, beta subunit) HBA (hemoglobin, alpha) HBA2 (hemoglobin, alpha-2) HBB (hemoglobin, beta) HLCS (Holocarboxylase synthetase) HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase) HPD (4-hydroxyphenylpyruvate dioxygenase) HSD17B10 (hydroxysteroid (17-beta) dehydrogenase 10) IVD (Isovaleryl-CoA dehydrogenase) IYD (Iodotyrosine deiodinase) MAT1A (Methionine adenosyltransferase I, alpha) MCCC1 (Methylcrotonoyl-coenzyme A carboxylase 1 (alpha) ) MCCC2 (Methylcrotonoyl-coenzyme A carboxylase 2 (beta) ) MMAA (Methylmalonic aciduria (cobalamin deficiency) type A) MMAB (Methylmalonic aciduria (Cobalamin deficiency) type B) MMACHC (Methylmalonic aciduria (cobalamin deficiency) cblC type) MMADHC (methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria) MUT (Methylmalonyl CoA mutase) OPA3 (Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) ) PAH (Phenylalanine hydroxylase) PAX8 (Paired box homeotic gene 8) PCBD1 (Pterin-4-alpha-carbinolamine dehydratase 1) PCCA (propionyl CoA carboxylase, alpha polypeptide) PCCB (propionyl CoA carboxylase, beta polypeptide) PTS (6-pyruvoyltetrahydropterin synthase) QDPR (Quinoid dihydropteridine reductase) SLC22A5 (Solute carrier family 22 (organic cation transporter), member 5 (OCTN2) ) SLC25A13 (Solute carrier family 25, member 13 (Citrin)) SPR (sepiapterin reductase) TAT (Tyrosine aminotransferase) TAZ (Tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2 - Barth syndrome)) TPO (Thyroid peroxidase) TSHR (Thyroid stimulating hormone receptor) PRKDC SLC25A20 ACADSB HBG1 HBG2 MLYCD CD320 Other, specify:
NDERFCCPID	DERF is CCPID flag	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: DERF is CCPID flag Pick List Value:
NDERFCMPL	If the DERF and review process complete?	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates whether the DERF / SDRF and the NSO review process of the DERF / SDRF are complete. This field is to be completed by NSO users only. Pick List Value:
NDERFDDINF	Was the diagnosis made in the infant?	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether the definitive diagnosis was made in the infant. Pick List Value:
NDERFDDMOTH	Was the diagnosis made in the mother?	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether the definitive diagnosis was made in the mother. Pick List Value:
NDERFFRM1	Date Retrieval Confirmation Form Submitted to NSO	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The date that the Retrieval Confirmation Information was saved in the BORN system Pick List Value:
NDERFFRMTYPE	NSO DERF Form Type	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates the disease specific Diagnostic Evaluation Report Form Pick List Value: Biotinidase Deficiency C5OH Congenital Adrenal Hyperplasia (CAH) Cystic Fibrosis (CF) Congenital Hypothyroidism (CH) Citrullinemias CPT I CPT II CUD GA1 Galactosemia Homocystinuria Hemoglobinopathies Isovaleric Acidemia (IVA) LCHAD MCADD Maple Syrup Urine Disease (MSUD) PA/MMA Phenylketonuria (PKU) Severe Combined Immunodeficiency (SCID) Tyrosinemias VLCAD Generic Form
NDERFFVISR	DERF Follow-Up Visit Required Flag	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: DERF Follow-Up Visit Required Flag Pick List Value:
NDERFGENEVAR	NSODERF Gene Variant	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: NSODERF Gene Variant Pick List Value: c.436C>T (p.Arg146Trp; pR146W) c.428A>G (p.Asp143Gly; p.D143G) c.4272C>T (p.Tyr1424Tyr; p.Y1424Y) c.-41A>C c.42C>A c.442delA (p.Ile148Leufs) c.443C>T (p.Thr148Ile; p.T148I) c.443A>G (p.Gln148Arg; p.Q148R) c.437delT (p.Leu146Trpfs) c.43G>T (p.Gly15Trp; p.G15W) c.4389G>A (p.Gln1463Gln; p.Q1463Q) c.44 T>C (p.Val5Ala; p.V5A) c.397G>T (p.Val133Leu; p.V133L) c.394C>T (p.Arg132Stop; p.R132X) c.3889dupT(p.Ser1297Phefs5) c.3905T>C (p.Met1302Thr; p.M1302T) c.3879delA c.1001A>G (p.Lys334Arg; p.K334R) 9T 7T 5T c.100G>A (p.Gly34Ser; p.G34S) c.1009_1011del (p.Leu337del) c.1010A>C (p.Tyr337Ser; p.Y337S) c.1027G>C (p.Gly343Arg; p.G343R) c.1016C>T (p.Ser339Leu; p.S339L) c.1040G>C (p.Arg347Pro; p.R347P) c.1046C>T (p.Ala349Val; p.A349V) c.1049 C>A (p.Ser350Tyr; p.S350Y) c.1045C>T (p.Arg349Ter; p.R349X) c.1091-2_1092del4ins18 c.1115C>A (p.Ala372Asp; p.A372D) c.1068T>A c.1135G>A (p.Ala379Thr; p.A379T) c.1066-11G>A c.1052delC (p.Thr351Lysfs12; p.T351Kfs12) c.1148T>A (p.Phe383Tyr; p.F383Y) c.105_109del (p.Arg37Alafs20) c.1168G>A (p.Gly390Arg; p.G390R) c.1169A>G (p.Glu390Gly; p.E390G) c.1171C>T (p.Pro391Ser; p.P391S) c.1173C>A (p.Phe391Leu; p.F391L) c.2002C>T (p.Arg668Cys; p.R668C) c.331C>T (p.Arg111Ter) c.384-20A>G c.2128A>T (p.Lys710Ter) c.3846G>A (p.Trp1282Ter; W1282X) c.387+91dupA c.200C>T (p.Thr67Met; p.T67M) c.2015_2052delAAinsG (p.Lys684SerfsX38; 2183AA>G) c.209C>T (p.Ser70Leu; p.S70L) c.383_385del (p.Val128del) c.349C>T (p.Arg117Cys; p.R117C) c.3486_3487delAG c.332_339delGAGACTAC (p.Gly111Valfs) c.362C>T (p.Thr121Ile; p.T121I) c.34G>A (p.Ala12Thr; p.A12T) c.3794G>T (p.Gly1265Val; p.G1265V) c.377G>A (p.Gly126Asp; p.G126D) c.366T>G (p.Asn122Lys; p.D122K) c.372T>A (p.Asp142Glu; p.D142E) c.56_57delGCinsAA (p.Arg19Gln; p.R19Q) c.557G>A (p.Cys186Tyr; p.C186Y) c.556C>T (p.His186Tyr; p.H186Y) c.572T>C (p.Met191Thr; p.M191T) c.568C>T (p.His190Tyr; p.H190Y) c.556C>T (p.Arg186Trp; p.R186W) c.547C>T (p.Arg183Trp; p.R183W) c.1A>G (p.Met1Val; p.M1V) c.1717-1G>T c.19G>A (p.Asp7Asn; Hb Dunn) c.1843C>T (p.Arg615Ter) c.1844G>A (p.Arg615Gln; p.R615Q) c.1868G>T (p.Gly623Val; p.G623V) c.194T>C (p.Ile65Thr; p.I65T) c.199-10T>G c.1741G>T (p.Val581Phe; p.V581F) c.1793A>G (p.His598Arg; p.H598R) c.1727G>C (p.Gly576Ala; p.G576A) c.656G>A (p.Arg219His; p.R219H) c.652C>T (p.Leu218Leu; p.L218L) c.658_660delAAG (p.Lys220del) c.682G>T (p.Asp228Tyr; D228Y) c.683A>G (p.Asn228Ser; p.N228S) c.680A>T (p.Asp227Val; p.D227V) c.688-2A>G c.701C>T (p.Thr234Ile; p.T234I) c.701G>A (p.Arg234Gln; p.R234Q) c.709G>A (p.Ala237Thr; p.A237T) c.710T>A (p.Ile237Asn; p.I237N) c.713T>A (p.Val238Glu; p.V238E) c.719T>A (p.Met240Lys; p.M240K) c.722G>A (p.Arg241His; p.R241H) c.728G>A (p.Arg243Gln; p.R243Q) c.734T>C (p.Val245Ala; p.V245A) c.744-33GATT[7]+[7] c.753-23_753-22del c.753-2A>C c.757G>A (p.Asp253Asn; p.D253N) c.775C>T (p.Arg259Trp; p.R259W) c.779C>T (p.Thr260Met; p.T260M) c.782G>A (p.Arg261Gln; R261Q) c.787G>A (p.Val263Met; p.V263M) c.896A>T (p.Lys299Met; p.K299M) c.855G>T (p.Lys285Asn; p.K285N) c.8591A>C (p.His2864Pro; p.H2864P) c.860G>A (p.Gly287Asp; p.G287D) c.865G>A (p.Gly289Arg; p.G289R) c.877G>A (p.Ala293Thr; p.A293T) c.881G>A (p.Gly294Glu; p.G294E) c.896_898delAGA (p.Lys299del) c.895C>T (p.Arg299Cys; p.R299C) c.887G>A (p.Arg296Gln; p.R296Q) c.887_888delCT (p.Pro296Argfs) c.896C>T (p.Ala299Val; p.A299V) c.896T>G (p.Phe299Cys; p.F299C) c.898G>T (p.Ala300Ser; p.A300S) c.916A>G (p.Ile306Val; p.I306V) c.92+1G>T c.923dupT (p.Leu308Phefs) c.925G>A (p.Gly309Arg; p.G309R) c.92C>T (p.Pro31Leu; p.P31L) c.92G>C (p.Arg31Thr; Hb Kairouan) c.93-21G>C c.937C>T (p.Arg313Trp; p.R313W) c.939A>G (p.Ile313Met; p.I313M) c.945+1G>C c.946-4C>G c.948delT (1078delT) c.950T>C (p.Val317Ala; p.V317A) c.955C>T (p.Gln319Ter) c.956C>T (p.Ser319Phe; p.S319F) c.958T>G (p.Leu320Val; p.L320V) c.970C>T (p.Arg324Ter) c.971G>T (p.Gly324Val; p.G324V) c.977T>C (p.Val326Ala; p.V326A) c.518T>A (p.Ile173Asn; p.I173N) c.51C>G (p.Phe17Leu; p.F17L) c.51dupT (p.Ala5CysfsX5) c.535G>T (p.Gly179Trp; p.G179W) c.622C>T (p.Arg208Ter) c.609G>A (p.Trp203Ter) c.629A>G (p.Tyr210Cys; p.Y210C) c.604T>C (p.Phe202Leu; p.F202L) c.638T>C (p.Leu213Pro; p.L213P) c.632G>A (p.Arg211His; p.R211H) c.641A>G (p.Asn214Ser; p.N214S) c.641T>A (p.Ile214Lys; p.I214K) c.641A>C (p.Asn214Thr; p.N214T) c.631C>T (p.Arg211Cys; p.R211C) c.64C>T (p.Pro22Ser; p.P22S) c.645C>T (p.Leu215Leu; p.L215L) c.847_850delCTGG c.990dupT (p.Glu331Terfs) c.991T>C (p.Cys331Arg; p.C331R) c.996+17G>A SNP rs11316888 (intron variant) SNP rs12022011 (intron variant) SNP rs140871321 SNP rs150422765 (intron variant) SNP rs17671352 (benign) SNP rs2277202 (benign) SNP rs3817641 (benign) SNP rs41274865 (benign) SNP rs41274867 (benign) SNP rs60400822 (benign) SNP rs6145976 (benign) SNP rs77680021 SNP rs8064573 c.2490+1G>A (2622+1G>A) c.236G>A (p.Arg79His; p.R79H) c.233T>C (p.Ile78Thr; p.I78T) c.2562T>G (p.Thr854Thr; 2694T>G) c.253G>T (p.Gly85Cys; p.G85C) c.2604A>G c.262_264delGAG (p.Glu88del; p.E88del) c.276G>T (p.Glu92Asp; p.E92D) c.281 A>G (p.Asp94Gly; p.D94G) c.283G>A (p.Asp95Asn; Hb F Columbus-GA) c.382_384delTAC (p.Tyr128del) c.380C>T (p.Pro127Leu; p.P127L) c.2260G>A (p.Val754Met; V754M) c.227T>C (p.Leu76Pro; Hb Atlanta) c.227T>C (p.Ile76Thr; Hb F Waynesboro) c.224G>A (p.Arg75Gln; R75Q) c.216+2T>C c.223C>T (p.Arg75Ter) c.473G>A (p.Arg158Gln; p.R158Q) c.470G>A (p.Arg157His; p.R157H) c.456G>A (p.Trp152Ter) c.443T>C (p.Ile148Asn; p.I148N) c.1717-1G>A c.-170G>A (Sardinian HPFH) c.511G>A (p.Ala171Thr; p.A171T) c.507delG (p.Glu169AspfsX11) c.50G>A (p.Gly17Asp; Hb J-Baltimore) c.443G>A (p.Arg148Lys; p.R148K) c.579+1G>T (711+1G>T) c.575T>G (p.Phe192Cys; p.F192C) c.577C>T (p.Arg193Trp; p.R193W) c.316-2A>G c.3196C>T (p.Arg1066Cys; p.R1066C) c.3197G>A (p.Arg1066His; p.R1066H) c.3222T>A (p.Phe1074Leu; p.F1074L) c.1451A>G (p.His484Arg; p.H484R) c.1475A>C (p.Asp492Ala; p.D492A) c.1475C>T (p.Thr492Ile; p.T492I) c.1489C>T (p.Pro497Ser; p.P497S) c.1500_1502del (p.Leu502del) c.151C>T (p.His51Tyr; p.H51Y) c.1408A>G (p.Met470Val; M470V) c.143T>C (p.Leu48Ser; p.L48S) c.1451_1452delGGinsC (p.Arg484Profs) c.142G>C (p.Asp48His; Hb Hasharon) c.1528G>C (p.Glu510Gln; p.E510Q) c.157C>T (p.Arg53Cys; p.R53C) c.157G>A (p.Asp53Asn; Hb Osu Christiansborg) c.138C>T c.-138C>T c.1700G>A (p.Arg567Gln; p.R567Q) c.17_18del c.17_del c.163_167delTTTTTinsAA c.165del (c.165delT) c.1678+1G>A c.1627delG c.1616A>G (p.Gln539Arg; p.Q539R) c.1584G>A (p.Glu528Glu; p.E528E) c.1603C>G (p.Leu535Val; p.L535V) c.1612C>T (p.Arg538Cys; p.R538C) c.1193C>A (p.Ala398Asp; p.A398D) c.1182+1G>A c.315+1G>A c.287G>T (p.Gly96Val; p.G96V) c.290A>T (p. Asp97Val; p.D97V) c.293-13C>G c.3067_3072delTAGTG (p.Ile1023Serfs) c.-11G>T c.1213A>G (p.Met405Val; p.M405V) c.1208C>T (p.Ala403Val; p.A403V) c.1315+1G>A c.1253G>A (p.Ser418Asn; p.S418N) c.1312T>A (p.Tyr438Asn; p.Y438N) c.1222C>T (p.Arg408Trp; p.R408W) c.1241A>G (p.Tyr414Cys; p.Y414C) c.1247T>C (p.Ile416Thr; p.I416T) c.1322G>A (p.Gly441Asp; p.G441D) c.-132-329A>G c.1324G>T (p.Val442Phe; p.V442F) c.133G>A (p.Gly45Arg; p.G45R) c.1367G>A (p.Arg456His; p.R456H) c.1375dupC (p.Arg459Profs) c.1376G>A (p.Arg459Gln; p.R459Q) c.1348T>G (p.Trp450Gly; p.W450G) c.1360G>A (p.Asp454Asn; p.D454N) c.1361A>G (p.Tyr454Cys; p.Y454C) c.1363delC (p.Leu455Phefs) c.-137C>G c.1388G>A (p.Gly463Glu; p.G463E) 619 bp deletion (g.71609_72227del619) c.1000C>T (p.Arg334Trp; R334W) c.1040G>A (p.Arg347His; R347H) c.1062+5G>A (IVS12+5 G>A) c.-119_-116delGTCA (5'UTR-119delGTCA) c.1193C>T (p.P398L) c.126_129delCTTT (p.Phe42fs) c.1316G>A; (p.Gly439Asp; p.G439D) c.1327_1330dup (p.Ile444Argfs) c.1330G>C (p.D444H) c.1364C>A (p.Ala455Glu; A455E) c.1367T>C (p.Val456Ala) c.1368A>C (p.Q456H) c.1413T>C (p.C471C) c.1436C>T (p.P479L; p.Pro479Leu) c.1463G>A (p.R488H) c.1466C>A (p.Ser489X; S489X) c.1508_1512delCCATG c.1519_1521delATC (p.Ile507del; I507del; DI507) c.1521_1523delCTT (p.Phe508del; F508del; dF508) c.1523T>G (p.Phe508Cys; F508C) c.1558G>T (p.Val520Phe; V520F) c.1595C>T (p.T532M) c.1616C>A c.1624G>T (p.Gly542X; G542X) c.1630G>A (p.Gly544Ser) c.1646G>A (p.Ser549Asn; S549N) c.1652G>A (p.Gly551Asp; G551D) c.1657C>T (p.Arg553X; R553X) c.1675G>A (p.Ala559Thr; A559T) c.1679G>C (p.Arg560Thr; R560T) c.1705T>G (p.Tyr569Asp; Y569D) c.1766+1G>A (1898+1G>A) c.178G>T (p.Glu60X; E60X) c.190A>G (p.Met64Lys) c.192G>T (p.Gln64His; Q64H) c.199 T>C (p.Tyr67His; p.Y67H)) c.19G>A (HbC; p.Glu7Lys) c.200C>T (p.Pro67Leu; P67L) c.20A>T (HbS; p.Glu7Val) c.216+1G>A c.2162T>A (p.Val721Glu) c.220G>A (p.Asp74Asn; Hb G-Accra; Korle-Bu variant of Hb) c.223G>C (p.Asp74Gly; HbQ-Thailand) c.2246G>T (p.R749L; p.Arg749Leu) c.233C>A (p.Pro78His; HbToulon) c.237C>A (p.Asn79Lys; HbStanleyville-II) c.254G>A (p.Gly85Glu; G85E) c.262_263delTT (p.Leu88IlefsX22; 394delTT) c.263T>A (p.Leu88X) c.2657+2_2657+3insA (2789+2insA) c.2657+5G>A (2789+5G>A) c.271dupA (p.Arg91Lysfs) c.2734T>A (p.Ser912Thr) c.278-41del c.27dupG (c.27_28insG; p.Ser10Valfs*14) c.2988+1G>A (3120+1G>A) c.350G>A (p.Arg117His;R117H) c.307A>C (p.Ser103Arg; HbManitoba I) c.3080T>C (p.Ile1027Thr; I1027T) c.3276C>A (p.Tyr1092X; Y1092X) c.3276C>G (p.Tyr1092X; Y1092X) c.3454G>C (p.Asp1152His; D1152H) c.3484C>T (p.Arg1162X; R1162X) c.364G>C (p.Glu121Gln; HbD) c.364G>C (p.Glu121Gly; HbD-Punjab; Hb D-Los Angelese) c.3659delC (p.Thr1220LysfsX8) c.367G>A (p.Gly123Arg) c.3717+12191C>T (3849+10kbC>T) c.3731G>A (p.Gly1244Glu; G1244E) c.3773_3774insT (3905insT) c.3808G>A (p.Asp1270Asn; D1270N) c.3909C>G (p.Asn1303Lys; N1303K) c.3937C>T (p.Gln1313X; Q1313X) c.395C>G (p.P132R) c.424G>T (p.A142S) c.427T>C (p.Ter143Glnext32; HbCS; HbConstant Spring) c.46G>C (p.Gly15Arg; HbOttawa) c.470G>A (p.R157H) c.489+1G>T (621+1G>T) c.511G>A (p.A171T) c.513C>G (p.Asp171Glu; p.D171E) c.51delC (p.Lys18Argfs) c.52A>T (p.Lys18Ter) c.554-1G>T (IVS6-1 G>T) c.563A>G (p.Gln188Arg; p.Q188R) c.583G>A (p.G195R) c.607-6T>G (IVS7-6 T>G) c.616C>T (p.R206C) c.617T>G (p.Leu206Trp; L206W) c.623-2_623-1del c.744-33GATT[6]+[6] (TTAG repeats) c.744-33GATT[6]+[7] (TTAG repeats) c.776C>T (p.Ala259Val) c.782C>T (p.Pro261Leu; P261L) c.799 G>A (p.Gly267Arg; p.G267R) c.-79A>G (-29A>G) c.79G>A (p.Glu27Lys; HbE) c.842G>C c.848T>C (p.V283A) c.869+11C>T (1001+11C>T) c.889_891del (p.Glu297del; p.E297del)) c.91+5G>T (IVS1+5G>T; IVS2+5G>T) c.91G>A (p.Glu31Gln; HbG-Honolulu) c.92+5G>C (IVS1-5 G>C) c.940A>G (p.Asn314Asp; N314D) C.941C>T (p.Ala314Val) c.98_104delGCGGCTGinsTCC (p.Cys33Phefs; c.98_104del7ins3) c.985A>G (p.Lys329Glu; p.K329E) Complete deletion deletion exon 2 deletion exons 4-11 FIL (g.11684_43534del31851) MED (g.24664_41064del16401) SEA (g.26264_45564del19301) South African (g.209051_232787delins157) THAI (g.10664_44164del33501) -α3.7 (3.7-kb rightward deletion) -α4.2 (4.2-kb leftward deletion) Other, please specify:
NDERFGNPRSHMY	Gene Variant Presumed Homozygous flag	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Gene Variant Presumed Homozygous flag Pick List Value:
NDERFGNVROTHER	NSODERF Gene Variant Other	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: NSODERF Gene Variant Other Pick List Value:
NDERFHCPINFR	DERF HCP not informed reason	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: DERF HCP not informed reason Pick List Value: Triaged Awaiting call back from parents Incorrect contact information No contact information for primary health care provider Family has moved Phone number out of service Awaiting call back from primary health care provider Unable to contact health care provider Infant is deceased Transferred to another treatment centre Incorrect health care provider listed No voice mail to leave message Registered mail undeliverable CAS involved to help locate Family / parents out of country Appointment pending Other No health care provider indicated Parents contacted directly No contact information for family
NDERFMAROHIP	NSO Missed Case Maternal Name and OHIP Note	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: The name and Ontario Health Card Number (if available) of the mother whose infant is affected with a disease on the NSO panel and was not diagnosed via newborn screening. Enter Unknown, CAS or adoption if applicable Pick List Value:
NDERFMUTPOLY	NSO DERF Were mutations / polymorphism/deletions/duplications detected?	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: NSO DERF Were mutations / polymorphism/deletions/duplications detected? Pick List Value:
NDERFNODEF	Reason for no definitive diagnosis established	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Please make a selection if the infant was lost to follow-up, or was deceased prior to establishment of diagnosis, or if no definitive diagnosis could be established for some reason. IF INFANT IS UNAFFECTED or a CARRIER (PRESUMED OR CONFIRMED), this is a "Definitive Diagnosis". Please click below and select "unaffected" or "carrier". Pick List Value:**
NDERFNODEFC	Reason comments for no definitive diagnosis established	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Pick List Value:
NDERFNRF	Infant Not Referred Followup	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates that the infant was not referred for followup Pick List Value:
NDERFNRR	Reason Infant Was Not Referred NSO Followup	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Reason Infant Was Not Referred for NSO Followup Pick List Value: Infant under 24 hours at sample collection and a normal repeat received Infant under 24hrs at sample collection, no repeat received as infant is deceased SCID prem, infant screen negative on repeat SCID prem, infant deceased SCID prem, infant referred on repeat CH positive <24 hours, not referred, awaiting repeat SCID prem, not referred, awaiting repeat Other
NDERFOBT	Was NSO obtained?	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether a dried blood spot was obtained for newborn screening in Ontario as reported to the health care provider completing the SDRF Pick List Value:
NDERFOBTJURFG	Was newborn screening obtained in another jurisdiction?	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether a dried blood spot or other sample type was obtained for newborn screening in a location other than Ontario as reported to the health care provider completing the SDRF. Pick List Value:
NDERFOBTJURS	Specify jurisdiction	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The location where the infant's newborn screening sample was obtained if it was obtained in a jurisdiction other than Ontario Pick List Value:
NDERFRESAPP	DERF results appended?	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates whether the treatment centre will fax results from the diagnostic investigations performed on the referred infant to NSO. If checked, please print a copy of the DERF / SDRF and fax DERF / SDRF and appropriate investigations to NSO at the given fax number Pick List Value:
NDERFRESAPPDET	DERF results appended details	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Investigations specified to be faxed to NSO at the given fax number Pick List Value:
NDERFRESPOS11	NSO DERF Was the result a true positive	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value: Not Affected Primary Target Primary Target - Variant or Indeterminate Secondary Target Secondary Target - Variant or Indeterminate Untargeted Disease Persistent laboratory abnormalities Carrier Maternal disease Maternal persistent laboratory abnormalities Lost to Follow up Deceased Other Transfer of Care Twin (screen negative)
NDERFREVD	DERF review date	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: DERF review date Pick List Value:
NDERFSHARE	Share information with NSO	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Parents/guardians have requested that the diagnostic evaluation information not be shared with NSO. Pick List Value:
NDERFTND	Test Not Done	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Indicates that the diagnostic investigation was not performed Pick List Value:
NDERFUSRADD	DERF is user added	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: DERF is user added Pick List Value:
NSODDTINIT	Diagnostic testing pending or initiated flag	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value:
NSODERF756	Family History of dyshormonogenesis	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value:
NSODERF757	How dyshormonogenesis diagnosis was made	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value:
NSODERF931	Is further information needed from the Treatment Centre	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value:
NSODERF932	NSO Reviewed By	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value: Dr. Pranesh Chakraborty Dr. Michael Geraghty Other (specify) Janet Marcadier Karen Tam Lauren Gallagher Sara Fernandez Nadine Drosdowech Emily Reuvers
NSODERF933	NSO Reviewed By Other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value:
NSODERF934	Additional Review Questions	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Pick List Value:
NSODERF935	NSO Review Comments	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Pick List Value:
NSODERFCHTS	NSO DERF CH Thyroid Scan	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Results of the nuclear medicine examination using a radioactive iodine tracer to determine thyroid location and function Pick List Value: Increased uptake Decreased uptake Normal No uptake Not reported
NSODERFCHUSIMG	NSO DERF CH Imaging by Ultrasound	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Imaging results of the thyroid gland Pick List Value: No thyroid tissue seen (Athyrotic) Reduced (Hypoplastic) Enlarged (Goiter) Normal Not reported
NSODERFGTM	Genetic Testing Methodology	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Genetic testing methodology Pick List Value: Common Mutation Panel Sequencing \ Single Gene Sequencing Sequencing \ Gene Panel Sequencing Sequencing \ Whole Exome Deletion/Duplication Deletion/Duplication \ FISH Deletion/Duplication \ Microarray Deletion/Duplication \ MLPA Deletion/Duplication \ QPCR
NSODERFPHCONF	NSODERF Gene Variant Phase Confirmed flag	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: NSODERF Gene Variant Phase Confirmed flag Pick List Value:
NSODERFUS	NSO DERF Ultrasound	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Imaging results of the gonads Pick List Value: Testes Ovaries
NSOFUADDQ	NSO Follow-Up Additional Review Questions	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: NSO Follow-Up Additional Review Questions Pick List Value:
NSOFUDIAGDT	Date of Diagnostic evaluation	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Date of Diagnostic evaluation Pick List Value:
NSOFUGNALL1OTHE	NSO DERF Gene Allele 1 Other	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: NSO DERF Gene Allele 1 Other Pick List Value:
NSOFUGNALL2OTHE	NSO DERF Gene Allele 2 Other	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: NSO DERF Gene Allele 2 Other Pick List Value:
NSOFUGNALLELE1	NSO DERF Gene Allele 1	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: NSO DERF Gene Allele 1 Pick List Value: c.384-20A>G c.387+91dupA c.3846G>A (p.Trp1282Ter; W1282X) c.3879delA c.3889dupT(p.Ser1297Phefs5) c.236G>A (p.Arg79His; p.R79H) c.233T>C (p.Ile78Thr; p.I78T) c.227T>C (p.Ile76Thr; Hb F Waynesboro) c.224G>A (p.Arg75Gln; R75Q) c.2260G>A (p.Val754Met; V754M) c.-170G>A (Sardinian HPFH) c.1717-1G>A c.1700G>A (p.Arg567Gln; p.R567Q) c.17_del c.157G>A (p.Asp53Asn; Hb Osu Christiansborg) c.157C>T (p.Arg53Cys; p.R53C) c.1528G>C (p.Glu510Gln; p.E510Q) c.151C>T (p.His51Tyr; p.H51Y) c.1040G>C (p.Arg347Pro; p.R347P) c.1046C>T (p.Ala349Val; p.A349V) c.1049 C>A (p.Ser350Tyr; p.S350Y) c.105_109del (p.Arg37Alafs20) c.1612C>T (p.Arg538Cys; p.R538C) c.1616A>G (p.Gln539Arg; p.Q539R) c.1603C>G (p.Leu535Val; p.L535V) c.1627delG c.1584G>A (p.Glu528Glu; p.E528E) c.17_18del c.1678+1G>A c.165del (c.165delT) c.163_167delTTTTTinsAA c.855G>T (p.Lys285Asn; p.K285N) c.782G>A (p.Arg261Gln; R261Q) c.787G>A (p.Val263Met; p.V263M) c.779C>T (p.Thr260Met; p.T260M) c.1A>G (p.Met1Val; p.M1V) c.19G>A (p.Asp7Asn; Hb Dunn) c.199-10T>G c.1868G>T (p.Gly623Val; p.G623V) c.194T>C (p.Ile65Thr; p.I65T) c.1741G>T (p.Val581Phe; p.V581F) c.1727G>C (p.Gly576Ala; p.G576A) c.1717-1G>T c.1844G>A (p.Arg615Gln; p.R615Q) c.1843C>T (p.Arg615Ter) c.1793A>G (p.His598Arg; p.H598R) c.-11G>T c.1182+1G>A c.1193C>A (p.Ala398Asp; p.A398D) c.1208C>T (p.Ala403Val; p.A403V) c.1213A>G (p.Met405Val; p.M405V) c.1222C>T (p.Arg408Trp; p.R408W) c.1148T>A (p.Phe383Tyr; p.F383Y) c.1168G>A (p.Gly390Arg; p.G390R) c.1135G>A (p.Ala379Thr; p.A379T) c.1115C>A (p.Ala372Asp; p.A372D) c.1173C>A (p.Phe391Leu; p.F391L) c.1171C>T (p.Pro391Ser; p.P391S) c.1169A>G (p.Glu390Gly; p.E390G) c.1241A>G (p.Tyr414Cys; p.Y414C) c.1068T>A c.1066-11G>A c.1091-2_1092del4ins18 c.1052delC (p.Thr351Lysfs12; p.T351Kfs12) c.629A>G (p.Tyr210Cys; p.Y210C) c.622C>T (p.Arg208Ter) c.3905T>C (p.Met1302Thr; p.M1302T) c.397G>T (p.Val133Leu; p.V133L) c.394C>T (p.Arg132Stop; p.R132X) c.775C>T (p.Arg259Trp; p.R259W) c.757G>A (p.Asp253Asn; p.D253N) c.209C>T (p.Ser70Leu; p.S70L) c.2015_2052delAAinsG (p.Lys684SerfsX38; 2183AA>G) c.216+2T>C c.2128A>T (p.Lys710Ter) c.383_385del (p.Val128del) c.382_384delTAC (p.Tyr128del) c.3794G>T (p.Gly1265Val; p.G1265V) c.380C>T (p.Pro127Leu; p.P127L) c.377G>A (p.Gly126Asp; p.G126D) c.372T>A (p.Asp142Glu; p.D142E) c.366T>G (p.Asn122Lys; p.D122K) c.223C>T (p.Arg75Ter) c.1010A>C (p.Tyr337Ser; p.Y337S) c.100G>A (p.Gly34Ser; p.G34S) c.1009_1011del (p.Leu337del) c.1001A>G (p.Lys334Arg; p.K334R) 9T c.1045C>T (p.Arg349Ter; p.R349X) c.1016C>T (p.Ser339Leu; p.S339L) c.1027G>C (p.Gly343Arg; p.G343R) c.632G>A (p.Arg211His; p.R211H) c.609G>A (p.Trp203Ter) c.631C>T (p.Arg211Cys; p.R211C) c.579+1G>T (711+1G>T) c.604T>C (p.Phe202Leu; p.F202L) c.996+17G>A c.991T>C (p.Cys331Arg; p.C331R) c.990dupT (p.Glu331Terfs) c.977T>C (p.Val326Ala; p.V326A) c.971G>T (p.Gly324Val; p.G324V) c.956C>T (p.Ser319Phe; p.S319F) c.970C>T (p.Arg324Ter) c.958T>G (p.Leu320Val; p.L320V) c.955C>T (p.Gln319Ter) c.950T>C (p.Val317Ala; p.V317A) c.948delT (1078delT) c.939A>G (p.Ile313Met; p.I313M) c.946-4C>G c.945+1G>C c.937C>T (p.Arg313Trp; p.R313W) c.93-21G>C c.92C>T (p.Pro31Leu; p.P31L) c.92G>C (p.Arg31Thr; Hb Kairouan) c.925G>A (p.Gly309Arg; p.G309R) c.1367G>A (p.Arg456His; p.R456H) c.1408A>G (p.Met470Val; M470V) c.138C>T c.-138C>T c.1388G>A (p.Gly463Glu; p.G463E) c.-137C>G c.1375dupC (p.Arg459Profs) c.1376G>A (p.Arg459Gln; p.R459Q) c.315+1G>A c.556C>T (p.His186Tyr; p.H186Y) c.556C>T (p.Arg186Trp; p.R186W) c.547C>T (p.Arg183Trp; p.R183W) c.535G>T (p.Gly179Trp; p.G179W) c.51C>G (p.Phe17Leu; p.F17L) c.51dupT (p.Ala5CysfsX5) c.518T>A (p.Ile173Asn; p.I173N) c.50G>A (p.Gly17Asp; Hb J-Baltimore) c.507delG (p.Glu169AspfsX11) c.511G>A (p.Ala171Thr; p.A171T) c.3197G>A (p.Arg1066His; p.R1066H) c.3222T>A (p.Phe1074Leu; p.F1074L) c.316-2A>G c.3196C>T (p.Arg1066Cys; p.R1066C) c.847_850delCTGG SNP rs77680021 SNP rs8064573 SNP rs60400822 (benign) SNP rs6145976 (benign) SNP rs41274867 (benign) SNP rs41274865 (benign) SNP rs2277202 (benign) SNP rs3817641 (benign) SNP rs17671352 (benign) SNP rs150422765 (intron variant) SNP rs140871321 SNP rs12022011 (intron variant) SNP rs11316888 (intron variant) c.1489C>T (p.Pro497Ser; p.P497S) c.1475A>C (p.Asp492Ala; p.D492A) c.1475C>T (p.Thr492Ile; p.T492I) c.1500_1502del (p.Leu502del) c.142G>C (p.Asp48His; Hb Hasharon) c.143T>C (p.Leu48Ser; p.L48S) c.1451_1452delGGinsC (p.Arg484Profs) c.1451A>G (p.His484Arg; p.H484R) c.42C>A 5T 7T c.-132-329A>G c.1322G>A (p.Gly441Asp; p.G441D) c.1315+1G>A c.1312T>A (p.Tyr438Asn; p.Y438N) c.1247T>C (p.Ile416Thr; p.I416T) c.1253G>A (p.Ser418Asn; p.S418N) c.734T>C (p.Val245Ala; p.V245A) c.744-33GATT[7]+[7] c.753-23_753-22del c.719T>A (p.Met240Lys; p.M240K) c.753-2A>C c.728G>A (p.Arg243Gln; p.R243Q) c.722G>A (p.Arg241His; p.R241H) c.658_660delAAG (p.Lys220del) c.656G>A (p.Arg219His; p.R219H) c.652C>T (p.Leu218Leu; p.L218L) c.64C>T (p.Pro22Ser; p.P22S) c.641A>C (p.Asn214Thr; p.N214T) c.641A>G (p.Asn214Ser; p.N214S) c.645C>T (p.Leu215Leu; p.L215L) c.641T>A (p.Ile214Lys; p.I214K) c.638T>C (p.Leu213Pro; p.L213P) c.713T>A (p.Val238Glu; p.V238E) c.2562T>G (p.Thr854Thr; 2694T>G) c.253G>T (p.Gly85Cys; p.G85C) c.2490+1G>A (2622+1G>A) c.4389G>A (p.Gln1463Gln; p.Q1463Q) c.227T>C (p.Leu76Pro; Hb Atlanta) c.436C>T (p.Arg146Trp; pR146W) c.43G>T (p.Gly15Trp; p.G15W) c.428A>G (p.Asp143Gly; p.D143G) c.437delT (p.Leu146Trpfs) c.575T>G (p.Phe192Cys; p.F192C) c.4272C>T (p.Tyr1424Tyr; p.Y1424Y) c.2604A>G c.-41A>C c.923dupT (p.Leu308Phefs) c.916A>G (p.Ile306Val; p.I306V) c.92+1G>T c.898G>T (p.Ala300Ser; p.A300S) c.896T>G (p.Phe299Cys; p.F299C) c.896C>T (p.Ala299Val; p.A299V) c.896A>T (p.Lys299Met; p.K299M) c.896_898delAGA (p.Lys299del) c.881G>A (p.Gly294Glu; p.G294E) c.887_888delCT (p.Pro296Argfs) c.887G>A (p.Arg296Gln; p.R296Q) c.895C>T (p.Arg299Cys; p.R299C) c.877G>A (p.Ala293Thr; p.A293T) c.865G>A (p.Gly289Arg; p.G289R) c.860G>A (p.Gly287Asp; p.G287D) c.8591A>C (p.His2864Pro; p.H2864P) c.710T>A (p.Ile237Asn; p.I237N) c.701C>T (p.Thr234Ile; p.T234I) c.701G>A (p.Arg234Gln; p.R234Q) c.709G>A (p.Ala237Thr; p.A237T) c.688-2A>G c.1363delC (p.Leu455Phefs) c.1361A>G (p.Tyr454Cys; p.Y454C) c.133G>A (p.Gly45Arg; p.G45R) c.1324G>T (p.Val442Phe; p.V442F) c.1348T>G (p.Trp450Gly; p.W450G) c.1360G>A (p.Asp454Asn; p.D454N) c.200C>T (p.Thr67Met; p.T67M) c.2002C>T (p.Arg668Cys; p.R668C) c.349C>T (p.Arg117Cys; p.R117C) c.3486_3487delAG c.332_339delGAGACTAC (p.Gly111Valfs) c.331C>T (p.Arg111Ter) c.56_57delGCinsAA (p.Arg19Gln; p.R19Q) c.557G>A (p.Cys186Tyr; p.C186Y) c.362C>T (p.Thr121Ile; p.T121I) c.34G>A (p.Ala12Thr; p.A12T) c.577C>T (p.Arg193Trp; p.R193W) c.572T>C (p.Met191Thr; p.M191T) c.568C>T (p.His190Tyr; p.H190Y) c.283G>A (p.Asp95Asn; Hb F Columbus-GA) c.290A>T (p. Asp97Val; p.D97V) c.287G>T (p.Gly96Val; p.G96V) c.281 A>G (p.Asp94Gly; p.D94G) c.262_264delGAG (p.Glu88del; p.E88del) c.276G>T (p.Glu92Asp; p.E92D) c.44 T>C (p.Val5Ala; p.V5A) c.3067_3072delTAGTG (p.Ile1023Serfs) c.293-13C>G c.443T>C (p.Ile148Asn; p.I148N) c.442delA (p.Ile148Leufs) c.443A>G (p.Gln148Arg; p.Q148R) c.443C>T (p.Thr148Ile; p.T148I) c.470G>A (p.Arg157His; p.R157H) c.473G>A (p.Arg158Gln; p.R158Q) c.443G>A (p.Arg148Lys; p.R148K) c.456G>A (p.Trp152Ter) c.683A>G (p.Asn228Ser; p.N228S) c.682G>T (p.Asp228Tyr; D228Y) c.680A>T (p.Asp227Val; p.D227V) 619 bp deletion (g.71609_72227del619) c.1000C>T (p.Arg334Trp; R334W) c.1040G>A (p.Arg347His; R347H) c.1062+5G>A (IVS12+5 G>A) c.-119_-116delGTCA (5'UTR-119delGTCA) c.1193C>T (p.P398L) c.126_129delCTTT (p.Phe42fs) c.1316G>A; (p.Gly439Asp; p.G439D) c.1327_1330dup (p.Ile444Argfs) c.1330G>C (p.D444H) c.1364C>A (p.Ala455Glu; A455E) c.1367T>C (p.Val456Ala) c.1368A>C (p.Q456H) c.1413T>C (p.C471C) c.1436C>T (p.P479L; p.Pro479Leu) c.1463G>A (p.R488H) c.1466C>A (p.Ser489X; S489X) c.1508_1512delCCATG c.1519_1521delATC (p.Ile507del; I507del; DI507) c.1521_1523delCTT (p.Phe508del; F508del; dF508) c.1523T>G (p.Phe508Cys; F508C) c.1558G>T (p.Val520Phe; V520F) c.1595C>T (p.T532M) c.1616C>A c.1624G>T (p.Gly542X; G542X) c.1630G>A (p.Gly544Ser) c.1646G>A (p.Ser549Asn; S549N) c.1652G>A (p.Gly551Asp; G551D) c.1657C>T (p.Arg553X; R553X) c.1675G>A (p.Ala559Thr; A559T) c.1679G>C (p.Arg560Thr; R560T) c.1705T>G (p.Tyr569Asp; Y569D) c.1766+1G>A (1898+1G>A) c.178G>T (p.Glu60X; E60X) c.190A>G (p.Met64Lys) c.192G>T (p.Gln64His; Q64H) c.199 T>C (p.Tyr67His; p.Y67H)) c.19G>A (HbC; p.Glu7Lys) c.200C>T (p.Pro67Leu; P67L) c.20A>T (HbS; p.Glu7Val) c.216+1G>A c.2162T>A (p.Val721Glu) c.220G>A (p.Asp74Asn; Hb G-Accra; Korle-Bu variant of Hb) c.223G>C (p.Asp74Gly; HbQ-Thailand) c.2246G>T (p.R749L; p.Arg749Leu) c.233C>A (p.Pro78His; HbToulon) c.237C>A (p.Asn79Lys; HbStanleyville-II) c.254G>A (p.Gly85Glu; G85E) c.262_263delTT (p.Leu88IlefsX22; 394delTT) c.263T>A (p.Leu88X) c.2657+2_2657+3insA (2789+2insA) c.2657+5G>A (2789+5G>A) c.271dupA (p.Arg91Lysfs) c.2734T>A (p.Ser912Thr) c.278-41del c.27dupG (c.27_28insG; p.Ser10Valfs*14) c.2988+1G>A (3120+1G>A) c.350G>A (p.Arg117His;R117H) c.307A>C (p.Ser103Arg; HbManitoba I) c.3080T>C (p.Ile1027Thr; I1027T) c.3276C>A (p.Tyr1092X; Y1092X) c.3276C>G (p.Tyr1092X; Y1092X) c.3454G>C (p.Asp1152His; D1152H) c.3484C>T (p.Arg1162X; R1162X) c.364G>C (p.Glu121Gln; HbD) c.364G>C (p.Glu121Gly; HbD-Punjab; Hb D-Los Angelese) c.3659delC (p.Thr1220LysfsX8) c.367G>A (p.Gly123Arg) c.3717+12191C>T (3849+10kbC>T) c.3731G>A (p.Gly1244Glu; G1244E) c.3773_3774insT (3905insT) c.3808G>A (p.Asp1270Asn; D1270N) c.3909C>G (p.Asn1303Lys; N1303K) c.3937C>T (p.Gln1313X; Q1313X) c.395C>G (p.P132R) c.424G>T (p.A142S) c.427T>C (p.Ter143Glnext32; HbCS; HbConstant Spring) c.46G>C (p.Gly15Arg; HbOttawa) c.470G>A (p.R157H) c.489+1G>T (621+1G>T) c.511G>A (p.A171T) c.513C>G (p.Asp171Glu; p.D171E) c.51delC (p.Lys18Argfs) c.52A>T (p.Lys18Ter) c.554-1G>T (IVS6-1 G>T) c.563A>G (p.Gln188Arg; p.Q188R) c.583G>A (p.G195R) c.607-6T>G (IVS7-6 T>G) c.616C>T (p.R206C) c.617T>G (p.Leu206Trp; L206W) c.623-2_623-1del c.744-33GATT[6]+[6] (TTAG repeats) c.744-33GATT[6]+[7] (TTAG repeats) c.776C>T (p.Ala259Val) c.782C>T (p.Pro261Leu; P261L) c.799 G>A (p.Gly267Arg; p.G267R) c.-79A>G (-29A>G) c.79G>A (p.Glu27Lys; HbE) c.842G>C c.848T>C (p.V283A) c.869+11C>T (1001+11C>T) c.889_891del (p.Glu297del; p.E297del)) c.91+5G>T (IVS1+5G>T; IVS2+5G>T) c.91G>A (p.Glu31Gln; HbG-Honolulu) c.92+5G>C (IVS1-5 G>C) c.940A>G (p.Asn314Asp; N314D) C.941C>T (p.Ala314Val) c.98_104delGCGGCTGinsTCC (p.Cys33Phefs; c.98_104del7ins3) c.985A>G (p.Lys329Glu; p.K329E) Complete deletion deletion exon 2 deletion exons 4-11 FIL (g.11684_43534del31851) MED (g.24664_41064del16401) SEA (g.26264_45564del19301) South African (g.209051_232787delins157) THAI (g.10664_44164del33501) -α3.7 (3.7-kb rightward deletion) -α4.2 (4.2-kb leftward deletion) Other, please specify:
NSOFUGNALLELE2	NSO DERF Gene Allele 2	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Pick List Value: c.753-2A>C c.757G>A (p.Asp253Asn; p.D253N) c.744-33GATT[7]+[7] c.753-23_753-22del c.734T>C (p.Val245Ala; p.V245A) c.728G>A (p.Arg243Gln; p.R243Q) c.722G>A (p.Arg241His; p.R241H) c.719T>A (p.Met240Lys; p.M240K) c.713T>A (p.Val238Glu; p.V238E) c.710T>A (p.Ile237Asn; p.I237N) c.233T>C (p.Ile78Thr; p.I78T) c.556C>T (p.His186Tyr; p.H186Y) c.547C>T (p.Arg183Trp; p.R183W) c.556C>T (p.Arg186Trp; p.R186W) c.518T>A (p.Ile173Asn; p.I173N) c.51C>G (p.Phe17Leu; p.F17L) c.535G>T (p.Gly179Trp; p.G179W) c.51dupT (p.Ala5CysfsX5) c.511G>A (p.Ala171Thr; p.A171T) c.507delG (p.Glu169AspfsX11) c.50G>A (p.Gly17Asp; Hb J-Baltimore) c.958T>G (p.Leu320Val; p.L320V) c.956C>T (p.Ser319Phe; p.S319F) SNP rs12022011 (intron variant) SNP rs140871321 SNP rs150422765 (intron variant) c.996+17G>A SNP rs11316888 (intron variant) c.970C>T (p.Arg324Ter) c.971G>T (p.Gly324Val; p.G324V) c.977T>C (p.Val326Ala; p.V326A) c.991T>C (p.Cys331Arg; p.C331R) c.990dupT (p.Glu331Terfs) c.656G>A (p.Arg219His; p.R219H) c.652C>T (p.Leu218Leu; p.L218L) c.64C>T (p.Pro22Ser; p.P22S) c.641T>A (p.Ile214Lys; p.I214K) c.645C>T (p.Leu215Leu; p.L215L) c.436C>T (p.Arg146Trp; pR146W) c.42C>A c.428A>G (p.Asp143Gly; p.D143G) c.4272C>T (p.Tyr1424Tyr; p.Y1424Y) c.-41A>C c.916A>G (p.Ile306Val; p.I306V) c.896_898delAGA (p.Lys299del) c.887G>A (p.Arg296Gln; p.R296Q) c.895C>T (p.Arg299Cys; p.R299C) c.896A>T (p.Lys299Met; p.K299M) c.896C>T (p.Ala299Val; p.A299V) c.898G>T (p.Ala300Ser; p.A300S) c.896T>G (p.Phe299Cys; p.F299C) c.394C>T (p.Arg132Stop; p.R132X) c.397G>T (p.Val133Leu; p.V133L) c.287G>T (p.Gly96Val; p.G96V) c.283G>A (p.Asp95Asn; Hb F Columbus-GA) c.281 A>G (p.Asp94Gly; p.D94G) c.262_264delGAG (p.Glu88del; p.E88del) c.276G>T (p.Glu92Asp; p.E92D) c.92C>T (p.Pro31Leu; p.P31L) c.92+1G>T c.923dupT (p.Leu308Phefs) c.925G>A (p.Gly309Arg; p.G309R) c.658_660delAAG (p.Lys220del) c.93-21G>C c.92G>C (p.Arg31Thr; Hb Kairouan) c.142G>C (p.Asp48His; Hb Hasharon) c.1500_1502del (p.Leu502del) c.151C>T (p.His51Tyr; p.H51Y) c.1475C>T (p.Thr492Ile; p.T492I) c.1528G>C (p.Glu510Gln; p.E510Q) c.157C>T (p.Arg53Cys; p.R53C) c.157G>A (p.Asp53Asn; Hb Osu Christiansborg) c.1489C>T (p.Pro497Ser; p.P497S) c.1451_1452delGGinsC (p.Arg484Profs) c.143T>C (p.Leu48Ser; p.L48S) c.1451A>G (p.His484Arg; p.H484R) c.1475A>C (p.Asp492Ala; p.D492A) c.1603C>G (p.Leu535Val; p.L535V) c.1612C>T (p.Arg538Cys; p.R538C) c.1616A>G (p.Gln539Arg; p.Q539R) c.1584G>A (p.Glu528Glu; p.E528E) c.1627delG c.1678+1G>A c.17_18del c.165del (c.165delT) c.17_del c.163_167delTTTTTinsAA c.1700G>A (p.Arg567Gln; p.R567Q) c.1717-1G>A c.1717-1G>T c.1727G>C (p.Gly576Ala; p.G576A) c.-170G>A (Sardinian HPFH) c.1741G>T (p.Val581Phe; p.V581F) c.331C>T (p.Arg111Ter) c.332_339delGAGACTAC (p.Gly111Valfs) c.349C>T (p.Arg117Cys; p.R117C) c.3486_3487delAG c.34G>A (p.Ala12Thr; p.A12T) c.3222T>A (p.Phe1074Leu; p.F1074L) c.443A>G (p.Gln148Arg; p.Q148R) c.44 T>C (p.Val5Ala; p.V5A) c.442delA (p.Ile148Leufs) c.4389G>A (p.Gln1463Gln; p.Q1463Q) c.43G>T (p.Gly15Trp; p.G15W) c.3196C>T (p.Arg1066Cys; p.R1066C) c.316-2A>G c.437delT (p.Leu146Trpfs) c.315+1G>A c.293-13C>G c.3067_3072delTAGTG (p.Ile1023Serfs) c.290A>T (p. Asp97Val; p.D97V) c.709G>A (p.Ala237Thr; p.A237T) c.701G>A (p.Arg234Gln; p.R234Q) c.701C>T (p.Thr234Ile; p.T234I) c.688-2A>G c.682G>T (p.Asp228Tyr; D228Y) c.683A>G (p.Asn228Ser; p.N228S) c.680A>T (p.Asp227Val; p.D227V) c.473G>A (p.Arg158Gln; p.R158Q) c.937C>T (p.Arg313Trp; p.R313W) c.946-4C>G c.945+1G>C c.950T>C (p.Val317Ala; p.V317A) c.948delT (1078delT) c.939A>G (p.Ile313Met; p.I313M) c.955C>T (p.Gln319Ter) c.443G>A (p.Arg148Lys; p.R148K) c.443T>C (p.Ile148Asn; p.I148N) c.456G>A (p.Trp152Ter) c.470G>A (p.Arg157His; p.R157H) c.443C>T (p.Thr148Ile; p.T148I) c.3197G>A (p.Arg1066His; p.R1066H) c.604T>C (p.Phe202Leu; p.F202L) c.579+1G>T (711+1G>T) c.577C>T (p.Arg193Trp; p.R193W) c.575T>G (p.Phe192Cys; p.F192C) c.779C>T (p.Thr260Met; p.T260M) c.775C>T (p.Arg259Trp; p.R259W) c.855G>T (p.Lys285Asn; p.K285N) c.787G>A (p.Val263Met; p.V263M) c.8591A>C (p.His2864Pro; p.H2864P) c.782G>A (p.Arg261Gln; R261Q) c.568C>T (p.His190Tyr; p.H190Y) c.572T>C (p.Met191Thr; p.M191T) c.56_57delGCinsAA (p.Arg19Gln; p.R19Q) c.3794G>T (p.Gly1265Val; p.G1265V) c.227T>C (p.Leu76Pro; Hb Atlanta) c.557G>A (p.Cys186Tyr; p.C186Y) c.372T>A (p.Asp142Glu; p.D142E) c.377G>A (p.Gly126Asp; p.G126D) c.383_385del (p.Val128del) c.382_384delTAC (p.Tyr128del) c.380C>T (p.Pro127Leu; p.P127L) c.2002C>T (p.Arg668Cys; p.R668C) c.200C>T (p.Thr67Met; p.T67M) c.2015_2052delAAinsG (p.Lys684SerfsX38; 2183AA>G) c.209C>T (p.Ser70Leu; p.S70L) c.2128A>T (p.Lys710Ter) c.223C>T (p.Arg75Ter) c.216+2T>C c.224G>A (p.Arg75Gln; R75Q) c.2260G>A (p.Val754Met; V754M) c.366T>G (p.Asn122Lys; p.D122K) c.362C>T (p.Thr121Ile; p.T121I) c.1A>G (p.Met1Val; p.M1V) 5T c.19G>A (p.Asp7Asn; Hb Dunn) c.1793A>G (p.His598Arg; p.H598R) c.1843C>T (p.Arg615Ter) c.1844G>A (p.Arg615Gln; p.R615Q) c.1868G>T (p.Gly623Val; p.G623V) c.194T>C (p.Ile65Thr; p.I65T) c.199-10T>G c.641A>G (p.Asn214Ser; p.N214S) c.641A>C (p.Asn214Thr; p.N214T) c.638T>C (p.Leu213Pro; p.L213P) c.877G>A (p.Ala293Thr; p.A293T) c.632G>A (p.Arg211His; p.R211H) c.631C>T (p.Arg211Cys; p.R211C) c.629A>G (p.Tyr210Cys; p.Y210C) c.609G>A (p.Trp203Ter) c.622C>T (p.Arg208Ter) c.3905T>C (p.Met1302Thr; p.M1302T) c.3889dupT(p.Ser1297Phefs5) c.3879delA c.387+91dupA c.3846G>A (p.Trp1282Ter; W1282X) c.384-20A>G c.2562T>G (p.Thr854Thr; 2694T>G) c.253G>T (p.Gly85Cys; p.G85C) c.2604A>G c.887_888delCT (p.Pro296Argfs) c.881G>A (p.Gly294Glu; p.G294E) 9T c.1001A>G (p.Lys334Arg; p.K334R) c.1009_1011del (p.Leu337del) c.1027G>C (p.Gly343Arg; p.G343R) c.1016C>T (p.Ser339Leu; p.S339L) c.1045C>T (p.Arg349Ter; p.R349X) c.1046C>T (p.Ala349Val; p.A349V) c.1010A>C (p.Tyr337Ser; p.Y337S) 7T c.100G>A (p.Gly34Ser; p.G34S) c.1148T>A (p.Phe383Tyr; p.F383Y) c.1168G>A (p.Gly390Arg; p.G390R) c.1066-11G>A c.1068T>A c.1091-2_1092del4ins18 c.1115C>A (p.Ala372Asp; p.A372D) c.1052delC (p.Thr351Lysfs12; p.T351Kfs12) c.1040G>C (p.Arg347Pro; p.R347P) c.1049 C>A (p.Ser350Tyr; p.S350Y) c.105_109del (p.Arg37Alafs20) c.1169A>G (p.Glu390Gly; p.E390G) c.1135G>A (p.Ala379Thr; p.A379T) SNP rs77680021 SNP rs8064573 SNP rs60400822 (benign) SNP rs6145976 (benign) c.847_850delCTGG SNP rs41274865 (benign) SNP rs2277202 (benign) SNP rs41274867 (benign) SNP rs3817641 (benign) c.865G>A (p.Gly289Arg; p.G289R) c.860G>A (p.Gly287Asp; p.G287D) SNP rs17671352 (benign) c.2490+1G>A (2622+1G>A) c.236G>A (p.Arg79His; p.R79H) c.227T>C (p.Ile76Thr; Hb F Waynesboro) c.1173C>A (p.Phe391Leu; p.F391L) c.1171C>T (p.Pro391Ser; p.P391S) c.1182+1G>A c.1193C>A (p.Ala398Asp; p.A398D) c.1408A>G (p.Met470Val; M470V) c.-138C>T c.1360G>A (p.Asp454Asn; p.D454N) c.1361A>G (p.Tyr454Cys; p.Y454C) c.1363delC (p.Leu455Phefs) c.1376G>A (p.Arg459Gln; p.R459Q) c.1367G>A (p.Arg456His; p.R456H) c.1375dupC (p.Arg459Profs) c.-137C>G c.1388G>A (p.Gly463Glu; p.G463E) c.138C>T c.133G>A (p.Gly45Arg; p.G45R) c.-132-329A>G c.1348T>G (p.Trp450Gly; p.W450G) c.1208C>T (p.Ala403Val; p.A403V) c.1315+1G>A c.1322G>A (p.Gly441Asp; p.G441D) c.1324G>T (p.Val442Phe; p.V442F) c.1247T>C (p.Ile416Thr; p.I416T) c.1312T>A (p.Tyr438Asn; p.Y438N) c.1253G>A (p.Ser418Asn; p.S418N) c.1213A>G (p.Met405Val; p.M405V) c.1222C>T (p.Arg408Trp; p.R408W) c.1241A>G (p.Tyr414Cys; p.Y414C) c.-11G>T 619 bp deletion (g.71609_72227del619) c.1000C>T (p.Arg334Trp; R334W) c.1040G>A (p.Arg347His; R347H) c.1062+5G>A (IVS12+5 G>A) c.-119_-116delGTCA (5'UTR-119delGTCA) c.1193C>T (p.P398L) c.126_129delCTTT (p.Phe42fs) c.1316G>A; (p.Gly439Asp; p.G439D) c.1327_1330dup (p.Ile444Argfs) c.1330G>C (p.D444H) c.1364C>A (p.Ala455Glu; A455E) c.1367T>C (p.Val456Ala) c.1368A>C (p.Q456H) c.1413T>C (p.C471C) c.1436C>T (p.P479L; p.Pro479Leu) c.1463G>A (p.R488H) c.1466C>A (p.Ser489X; S489X) c.1508_1512delCCATG c.1519_1521delATC (p.Ile507del; I507del; DI507) c.1521_1523delCTT (p.Phe508del; F508del; dF508) c.1523T>G (p.Phe508Cys; F508C) c.1558G>T (p.Val520Phe; V520F) c.1595C>T (p.T532M) c.1616C>A c.1624G>T (p.Gly542X; G542X) c.1630G>A (p.Gly544Ser) c.1646G>A (p.Ser549Asn; S549N) c.1652G>A (p.Gly551Asp; G551D) c.1657C>T (p.Arg553X; R553X) c.1675G>A (p.Ala559Thr; A559T) c.1679G>C (p.Arg560Thr; R560T) c.1705T>G (p.Tyr569Asp; Y569D) c.1766+1G>A (1898+1G>A) c.178G>T (p.Glu60X; E60X) c.190A>G (p.Met64Lys) c.192G>T (p.Gln64His; Q64H) c.199 T>C (p.Tyr67His; p.Y67H)) c.19G>A (HbC; p.Glu7Lys) c.200C>T (p.Pro67Leu; P67L) c.20A>T (HbS; p.Glu7Val) c.216+1G>A c.2162T>A (p.Val721Glu) c.220G>A (p.Asp74Asn; Hb G-Accra; Korle-Bu variant of Hb) c.223G>C (p.Asp74Gly; HbQ-Thailand) c.2246G>T (p.R749L; p.Arg749Leu) c.233C>A (p.Pro78His; HbToulon) c.237C>A (p.Asn79Lys; HbStanleyville-II) c.254G>A (p.Gly85Glu; G85E) c.262_263delTT (p.Leu88IlefsX22; 394delTT) c.263T>A (p.Leu88X) c.2657+2_2657+3insA (2789+2insA) c.2657+5G>A (2789+5G>A) c.271dupA (p.Arg91Lysfs) c.2734T>A (p.Ser912Thr) c.278-41del c.27dupG (c.27_28insG; p.Ser10Valfs*14) c.2988+1G>A (3120+1G>A) c.350G>A (p.Arg117His;R117H) c.307A>C (p.Ser103Arg; HbManitoba I) c.3080T>C (p.Ile1027Thr; I1027T) c.3276C>A (p.Tyr1092X; Y1092X) c.3276C>G (p.Tyr1092X; Y1092X) c.3454G>C (p.Asp1152His; D1152H) c.3484C>T (p.Arg1162X; R1162X) c.364G>C (p.Glu121Gln; HbD) c.364G>C (p.Glu121Gly; HbD-Punjab; Hb D-Los Angelese) c.3659delC (p.Thr1220LysfsX8) c.367G>A (p.Gly123Arg) c.3717+12191C>T (3849+10kbC>T) c.3731G>A (p.Gly1244Glu; G1244E) c.3773_3774insT (3905insT) c.3808G>A (p.Asp1270Asn; D1270N) c.3909C>G (p.Asn1303Lys; N1303K) c.3937C>T (p.Gln1313X; Q1313X) c.395C>G (p.P132R) c.424G>T (p.A142S) c.427T>C (p.Ter143Glnext32; HbCS; HbConstant Spring) c.46G>C (p.Gly15Arg; HbOttawa) c.470G>A (p.R157H) c.489+1G>T (621+1G>T) c.511G>A (p.A171T) c.513C>G (p.Asp171Glu; p.D171E) c.51delC (p.Lys18Argfs) c.52A>T (p.Lys18Ter) c.554-1G>T (IVS6-1 G>T) c.563A>G (p.Gln188Arg; p.Q188R) c.583G>A (p.G195R) c.607-6T>G (IVS7-6 T>G) c.616C>T (p.R206C) c.617T>G (p.Leu206Trp; L206W) c.623-2_623-1del c.744-33GATT[6]+[6] (TTAG repeats) c.744-33GATT[6]+[7] (TTAG repeats) c.776C>T (p.Ala259Val) c.782C>T (p.Pro261Leu; P261L) c.799 G>A (p.Gly267Arg; p.G267R) c.-79A>G (-29A>G) c.79G>A (p.Glu27Lys; HbE) c.842G>C c.848T>C (p.V283A) c.869+11C>T (1001+11C>T) c.889_891del (p.Glu297del; p.E297del)) c.91+5G>T (IVS1+5G>T; IVS2+5G>T) c.91G>A (p.Glu31Gln; HbG-Honolulu) c.92+5G>C (IVS1-5 G>C) c.940A>G (p.Asn314Asp; N314D) C.941C>T (p.Ala314Val) c.98_104delGCGGCTGinsTCC (p.Cys33Phefs; c.98_104del7ins3) c.985A>G (p.Lys329Glu; p.K329E) Complete deletion deletion exon 2 deletion exons 4-11 FIL (g.11684_43534del31851) MED (g.24664_41064del16401) SEA (g.26264_45564del19301) South African (g.209051_232787delins157) THAI (g.10664_44164del33501) -α3.7 (3.7-kb rightward deletion) -α4.2 (4.2-kb leftward deletion) Other, please specify:
NSOFUPHSCONF	NSODERF Phase Confirm Method	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: NSODERF Phase Confirm Method Pick List Value: Family studies Other, specify:
NSOSTFU0020	NSO STFU Follow-Up Profile Profile Type	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Not available to end user. Used to define types of profile for UI rendering Pick List Value:
NSOSTFU003	NSO Gaining Weight Comment	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding whether an infant with a positive newborn screen was gaining weight at the time of retrieval for diagnostic evaluation Pick List Value:
NSOSTFU012	NSO STFU Follow-Up Profile Diagnostic Analyte Name	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The name(s) of the analyte(s) measured in the diagnostic evaluation of the infant / child Pick List Value: Anti-Thyroid Peroxidase (TPO) FT3 Thyroglobulin (TG) Phenylalanine, Plasma Tyrosine, Plasma Succinylacetone, urine DHPR assay Succinylacetone, dried blood spot Citrulline, Plasma C2 acylcarnitine, Plasma AFP C14 acylcarnitine, Plasma C14:1 acylcarnitine, Plasma C16 acylcarnitine, Plasma C16:1 acylcarnitine, Plasma CBC Glutaric Acid, Urine 3-OH Glutaric Acid, Urine C5DC, Urine C5DC acylcarnitine, Plasma C18 acylcarnitine, Plasma C6 acylcarnitine, Plasma Gal-1-P Uridyl Transferase, RBC C8 acylcarnitine, Plasma Galactose, RBC C10 acylcarnitine, Plasma Galactose-1-Phosphate, RBC Galactitol, Urine C18:2 acylcarnitine, Plasma C14:1OH acylcarnitine, Plasma C14OH acylcarnitine, Plasma C16:1OH acylcarnitine, Plasma C16OH acylcarnitine, Plasma C18:1 acylcarnitine, Plasma C18:1OH acylcarnitine, Plasma C18OH acylcarnitine, Plasma C5 acylcarnitine, Plasma Total Carnitine, Plasma Newborn ASA, Plasma Free Carnitine, Plasma Newborn Creatinine, Plasma Newborn Total Carnitine, Urine Newborn Free Carnitine, Urine Newborn Creatinine, Urine Newborn Leucine Specify FE Carnitine or TRR% and value Total Carnitine, Plasma Mother Free Carnitine, Plasma Mother Creatinine, Plasma Mother CK Total Carnitine, Urine Mother Free Carnitine, Urine Mother Creatinine, Urine Mother Arginine, Plasma Valine Ornithine, Plasma Isoleucine Alanine, Plasma C5OH acylcarnitine, Plasma C5:1 acylcarnitine, Plasma C6DC acylcarnitine, Plasma Allo-Isoleucine Sweat Chloride Fecal elastase 72 hour fecal fat TSH FT4 TRAb Maternal Antibodies Thyroid Scan/Ultrasound (size) Glutamine, Plasma Ammonium, Plasma Orotic Acid, Urine ALT C3 acylcarnitine, Plasma C4DC acylcarnitine, Plasma Total Homocysteine, Plasma Newborn Serum B12, Infant Methionine, Plasma Molecular result Bilirubin, Serum AST GGT Mutation 1 Bilirubin Total 17-OH Progesterone Mutation 2 Bilirubin Direct Total Homocysteine, Maternal Plasma MMA, Maternal plasma Serum B12, Maternal Na K INR PTT Chloride DHEAS Ultrasound (CAH) Cortisol Renin HCO3 pH pCO2 Biotinidase, Plasma Glucose Other %Hgb A2 %Hgb A %Hgb F %Hgb S %Hgb C %Hgb D %Hgb E %Hgb Other CD3 CD4 CD8 CD19 CD20 CD16 / CD56 / CD3neg Glutaric Acid Isobutyrylglycine N-Butyrylglycine 2-Methylbutyrylglycine Isovalerylglycine N-Hexanoylglycine N-Octanoylglycine 3-Phenylpropionylglycine Suberylglycine Trans-Cinnamoylglycine Methylcrotonylglycine Tetrahydrobiopterin Neopterin:Biopterin Neopterin Biopterin ACTH at 0 min ACTH at 30 min ACTH at 60 min Glutamine Sarcosine Alpha Aminoadipic Acid Glycine Alanine Citrulline Amino-n-Butyric Acid Cystine Methionine Phosphoserine Cystathionine Tyrosine Phenylalanine Beta-Alanine Amino-Iso-Butyric acid Aminobutyric Acid Homocystine Ethanolamine Taurine Tryptophan Hydroxylysine / allo-Hydroxylysine Ornithine Lysine 1-Methylhistidine Histidine 3-Methylhistidine Anserine Phosphoethanolamine Carnosine Arginine Hydroxyproline Proline Asparagine Argininosuccinic Acid Aspartic Acid Threonine Serine Glutamic Acid Homocitrulline WBC RBC Hgb Hct MCV MCH MCHC RDW Platelets MPV Neutro Bands Neutro Polys Lymphocytes Monocytes Eosinophils Basophils Whole blood TREC Repeat NSO TREC on dried blood spot ADA activity PNP activity Adenosine Deoxyadenosine Guanosine Deoxyguanosine DBS 22q deletion 22q deletion CF Mutation 1 CF Mutation 2 PolyT tract (T/T) Polymorphism(s) CF MUT Other 1 CF MUT Other 2 C2 C3:1 C3 C4 C5:1 C5 C4OH C6 C5OH Benzoyl C6OH Phenylacetyl C8:1 C8 C3DC C10:3 C10:2 C10:1 C10 C4DC C5DC C12:1 C12 C6:DC C12-OH C14:2 C14:1 C14 C8:DC C14:1OH C14OH C16:1 C16 C10:DC C16:1OH C16OH C18:2 C18:1 C18 C18:2-OH C18:1-OH C18-OH C16:DC C18:1:DC Gene Thyroid Scan (location) Thyroid Scan (uptake)
NSOSTFU012I	Molecular Result Interpretation	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The interpretation of the results of the molecular investigations Pick List Value: Non-Pathogenic Polymorphism – Previously Reported Pathogenic Mutation - Previously Reported Presumed Non-Pathogenic Polymorphism – Previously Reported Presumed Non-Pathogenic Polymorphism – Previously Unreported Presumed Pathogenic Mutation - Previously Reported Presumed Pathogenic Mutation – Previously Unreported Variant of Unknown Significance – Previously Reported Variant of Unknown Significance - Previously Unreported
NSOSTFU013	NSO STFU Follow-Up Profile Diagnostic Analyte Value	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The numeric or alpha numeric value (result) of the analyte measured in the diagnostic evaluation of the infant / child Pick List Value:
NSOSTFU014	NSO STFU Follow-Up Profile Result	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The result of the profile performed in the diagnostic evaluation of the infant / child. Pick List Value: Abnormal Absent Negative Normal Positive Present Hgb Electrophoresis Hgb Isoelectric Focusing Hgb HPLC
NSOSTFU014TXT	NSO STFU Follow-Up Profile Result Test	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The result of the profile performed in the diagnostic evaluation of the infant / child. Pick List Value:
NSOSTFU015	Etiology of transient CH	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The etiology of the newborn's transient congenital hypothyroidism as determined after diagnostic investigations and evaluations following a positive newborn screen Pick List Value: Maternal PTU / Grave's treatment Thyroid blocking antibodies Prematurity Other known cause, specify: Unknown
NSOSTFU015-01	Etiology of transient CH, other	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of the cause of the transient congenital hypothyroidism in the infant with a positive newborn for CH excluding maternal PTU/Grave's treatment, thyroid blocking antibodies and prematurity Pick List Value:
NSOSTFU016	Hemoglobin method after positive newborn screen	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The method by which an infant's hemoglobin pattern and the percentages of each hemoglobin detected are determined after a positive newborn screen Pick List Value:
NSOSTFU017	NSO STFU Follow-Up Profile Name	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: Pick List Value: Additional Diagnostic Investigations Hemoglobin percentages Immunophenotyping Acylglycine profile Urinary pterin analysis Adrenocorticotropic hormone stimulation test Amino acid profile CBC (infant) CBC (maternal) SCID investigations 22q11 deletion results Repeat NSO purine profile on dried blood spot Purine profile CFTR molecular results Acylcarnitine profile (infant) Acylcarnitine profile (mother) Molecular results (in standard nomenclature) Organic acid profile (newborn/patient) Beutler test results Hemoglobin pattern Hemoglobin pattern determined by Hemoglobin H bodies Organic acid profile (maternal) Biopterin loading test Acylcarnitine probe results Enzymology probe results Palmitoyl-CoA-oxidation studies Venous blood gases
NSOSTFU2001	Comments regarding the clinical status of the screen positive patient (for data element NBS0111)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding the clinical status of the screen positive patient. If unwell is selected, please indicate the reason(s) why the infant was unwell at retrieval. Pick List Value:
NSOSTFU2002	Comments regarding whether the infant was diagnosed prior to retrieval (for data element NBS0110)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding whether the infant was diagnosed prior to retrieval (for data element NBS0110) Pick List Value:
NSOSTFU2003	Comments regarding whether the infant was symptomatic of the disease prior to retrieval	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding whether the infant had symptoms attributable to the disease for which they screened positive. If the infant did have symptoms, please specify symptoms here. Pick List Value:
NSOSTFU2004	Comments regarding whether the infant was gaining weight at the time of retrieval	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding whether the infant was gaining weight at the time of retrieval Pick List Value:
NSOSTFU2005	Comments regarding whether the infant was hospitalized due to the screen positive disease at the time of retrieval	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding whether the infant was hospitalized at the time of retrieval. If the infant was hospitalized at the time of retrieval, please specify reason(s) here. Pick List Value:
NSOSTFU2006	Comments regarding whether the infant was virilised	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding whether the infant was virilised Pick List Value:
NSOSTFU2007	Comments regarding maternal steroids	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding maternal steroids Pick List Value:
NSOSTFU2008	Comments regarding family members of screen positive infant (for data element NBS0030, NBS0031, NBS0108, NBS0032)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding family members of the screen positive infant(DERF) or the infant affected with an NSO target disease not ascertained by newborn screening (SDRF) Pick List Value:
NSOSTFU2009	Comments regarding etiology of transient CH	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding etiology of transient CH Pick List Value:
NSOSTFU2010	Comments regarding ascertainment of missed cases (for data element D0131)	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Comments regarding ascertainment of infants with an NSO target disease who were not ascertained by newborn screening (for data element D0131) Pick List Value:
NSOSTFU2030	Receive Entered Results CCPID Flag	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Receive Entered Results CCPID Flag Pick List Value:
NSOSTFU2040	Receive Entered Results Flag	NSO DERF
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Receive Entered Results Flag Pick List Value:
PSDP001	Prenatal Diagnostic Procedure Disposition	NSO DERF
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: An indication of whether a prenatal diagnostic procedure was offered, declined, accepted or unknown. Pick List Value:
Y02091	Birth Hospital	Birth Child, Labour & Birth Mother, Newborn Screening Ontario (NSO), NICU, NSO DERF, Postpartum Child, Postpartum Mother, HBHC Child
This variable is available for release but with restriction or approval from appropriate stakeholder. Data Definition: The name of the hospital where the birth occurred if Birth Location =hospital. Includes all Ontario hospitals with and without birthing units and some out of province and out of country hospitals. Pick List Value:

NSO DERF

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