Att3b ED3N Ongoing Transfer Data Elements

Form Approved

OMB No. 0920-xxxx

Exp. Date xx/xx/xxxx

Attachment 3b. ED3N Data Elements for Electronic Transfer 1

Infant Demographics

Unique ID

Date of Birth

Birthweight

Weight at Specimen Collection

Gestational Age

Plurality (Twin, Triplet, etc.)

Race

Ethnicity

Sex

Birth Procedure

Transfusion

Transfusion date

Infant Steroids

Infant Antibiotics

Feeding status (e.g., breast, soy, formula, etc.)

TPN (Y/N)

NICU Status (Y/N)

Adoption Status (Y/N)

Zip Code at Residence

Deceased Date (if applicable)

Deceased Cause (if applicable)

Birth Defects present (Y/N)

CDC estimates the average public reporting burden of this collection of information as 1 minute per response, including the time for reviewing instructions, searching existing data sources, gathering, and maintaining the data needed, and completing and reviewing the collection of information. An agency may not conduct or sponsor, and a person is not required to respond to a collection of information unless it displays a currently valid OMB control number. Send comments regarding this burden estimate or any other aspect of this collection of information including suggestions for reducing this burden to CDC/ATSDR Information Collection Review Office; 1600 Clifton Road NE, MS D-74 Atlanta, Georgia 30333; ATTN: PRA (0920-xxxx).

Maternal Birthdate

Maternal Antibiotics

Maternal Medications

Maternal Steroid Administration

Race (Mother)

Ethnicity (Mother)

Race (Father)

Ethnicity (Father)

Education (Mother)

Education (Father)

Age (Mother)

Age (Father)

Residental Zip Code(s)

Humidity

Temperature

Altitude

Hematocrit

Specimen Number

Collection Source (heelstick, venipuncture)

Specimen Age at receipt by lab

Age of infant at time of collection

Day of Collection

Time of Collection

Filter Paper Lot Number

Specimen Quality (unsat or valid)

Instrument Used
Sequencing Methodology (e.g., Sanger v NGS)
Regions of Gene analyzed
PT Data
QC Data
Variant Interpretations (done through Hub?)
Variant Data from the Following NBS Disorder Genes (if applicable)	Disease
ABCD1	X-linked Adrenoleukodystrophy
ABCD4	Methylmalonic acidemia and Homocystinuria
ACAD8	Isobutyryl-CoA dehydrogenase deficiency
ACADM	Medium-chain acyl-CoA dehydrogenase deficiency
ACADS	Short-chain acyl-CoA dehydrogenase deficiency
ACADSB	Short branched-chain acyl-CoA dehydrogenase deficiency
ACADVL	Very long-chain acyl-CoA dehydrogenase deficiency
ACAT1	Beta-ketothiolase deficiency
ACSF3	Combined Malonic and methylmalonic acidemia
ADA	Severe Combined Immune Deficiency/Primary Immune
AHCY	Hypermethioninemia
AK2	Severe Combined Immune Deficiency/Primary Immune
ARG1	Arginase Deficiency
ARSA	Metachromatic Leukodystrophy
ASL	Arginosuccinic Aciduria
ASS1	Citrullinemia
ATM	Ataxia Telangiectasia
AUH	3-methylglutaconyl-CoA hydratase deficiency
BCKDHA	Maple Syrup Urine Disease
BCKDHB	Maple Syrup Urine Disease
BLNK	Severe Combined Immune Deficiency/Primary Immune
BTD	Biotindase Deficiency
BTK	Severe Combined Immune Deficiency/Primary Immune
CBS	Homocystinuria
CD247	Severe Combined Immune Deficiency/Primary Immune
CD45	Severe Combined Immune Deficiency/Primary Immune

CD3D	Severe Combined Immune Deficiency/Primary Immune
CD3E	Severe Combined Immune Deficiency/Primary Immune
CD3G	Severe Combined Immune Deficiency/Primary Immune
CD3Z	Severe Combined Immune Deficiency/Primary Immune
CD40LG	Severe Combined Immune Deficiency/Primary Immune
CFTR	Severe Combined Immune Deficiency/Primary Immune
CHD7	Severe Combined Immune Deficiency/Primary Immune
CORO1A	Severe Combined Immune Deficiency/Primary Immune
CPS1	Carbamoyl phosphate synthetase I deficiency
CPT1A	Carnitine palmitoyltransferase I deficiency
CPT2	Carnitine palmitoyltransferase II deficiency
CYP21A2	Congenital Adrenal Hyperplasia
DBT	Maple Syrup Urine Disease
DCLRE1C	Severe Combined Immune Deficiency/Primary Immune
DKC1	Severe Combined Immune Deficiency/Primary Immune
DMD	Duchenne Muscular Dystrophy
DOCK2	Severe Combined Immune Deficiency/Primary Immune
DOCK8	Severe Combined Immune Deficiency/Primary Immune
ETFA	Glutaric Acidemia II
ETFB	Glutaric Acidemia II
ETFDH	Glutaric Acidemia II
FAH	Tyrosinemia
FOXN1	Severe Combined Immune Deficiency/Primary Immune
G6PD	Glucose 6 Phosphate Dehydrogenase Deficiency
GAA	Pompe disease
GALC	Krabbe disease
GALE	Galactosemia (epimerase)
GALK1	Galactosemia (kinase)
GALT	Galacosemia
GAMT	Guanidinoacetate methyltransferase deficiency
GATA2	Severe Combined Immune Deficiency/Primary Immune
GBA	Gaucher disease
GCDH	Glutaric ACidemia I
GCH1	Tetrahydrobiopterin deficiency

GLA	Fabry disease
GNMT	Hypermethioninemia
GPHN	Molybdenum cofactor deficiency
HADH	3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA	Long-chain acyl-CoA dehydrogenase deficiency
HADHB	Long-chain acyl-CoA dehydrogenase deficiency
HBA1	Alpha thalassemia
HBA2	Alpha thalassemia
HBB	Beta thalassemia
HCFC1	Methylmalonic acidemia with homocystinuria
HLCS	Holocarboxylase synthetase deficiency
HMGCL	3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HPD	Tyrosinemia
HSD17B10	HSD10 disease
IDS	Mucopolysaccharidosis, Type II
IDUA	Mucopolysaccharidosis, Type I
IGHM	Severe Combined Immune Deficiency/Primary Immune
IL2RG	Severe Combined Immune Deficiency/Primary Immune
IL7R	Severe Combined Immune Deficiency/Primary Immune
IVD	Isovaleric acidemia
JAK3	Severe Combined Immune Deficiency/Primary Immune
LIG4	Severe Combined Immune Deficiency/Primary Immune
LMBRD1	Methylmalonic acidemia with homocystinuria
MAT1A	Hypermethioninemia
MCCC1	3-methylcrotonyl-CoA carboxylase deficiency
MCCC2	3-methylcrotonyl-CoA carboxylase deficiency
MCEE	Methylmalonic acidemia
MMAA	Methylmalonic acidemia
MMAB	Methylmalonic acidemia
MMACHC	Methylmalonic acidemia with homocystinuria
MMADHC	Methylmalonic acidemia with homocystinuria
MMUT	Methylmalonic acidemia
MOCS1	Molybdenum cofactor deficiency
MOCS2	Molybdenum cofactor deficiency

MTHFR	Homocystinuria
MTHFD1	Severe Combined Immune Deficiency/Primary Immune
MTR	Severe Combined Immune Deficiency/Primary Immune
MTRR	Homocystinuria
NAGS	N-acetylglutamate synthase deficiency
NBN	Severe Combined Immune Deficiency/Primary Immune
NHEJ1	Severe Combined Immune Deficiency/Primary Immune
NPC1	Niemann-Pick disease
NPC2	Niemann-Pick disease
OTC	Ornithine transcarbamylase deficiency
PAH	Phenylketonuria
PCBD1	Tetrahydrobiopterin deficiency
PCCA	Propionic acidemia
PCCB	Propionic acidemia
PEX1	Zellweger spectrum disorder
PEX10	Zellweger spectrum disorder
PEX11B	Zellweger spectrum disorder
PEX12	Zellweger spectrum disorder
PEX13	Zellweger spectrum disorder
PEX14	Zellweger spectrum disorder
PEX16	Zellweger spectrum disorder
PEX19	Zellweger spectrum disorder
PEX2	Zellweger spectrum disorder
PEX26	Zellweger spectrum disorder
PEX3	Zellweger spectrum disorder
PEX5	Zellweger spectrum disorder
PEX6	Zellweger spectrum disorder
PNP	Severe Combined Immune Deficiency/Primary Immune
PRKDC	Severe Combined Immune Deficiency/Primary Immune
PTPRC	Severe Combined Immune Deficiency/Primary Immune
PTS	Tetrahydrobiopterin deficiency
QDPR	Tetrahydrobiopterin deficiency
RAC2	Severe Combined Immune Deficiency/Primary Immune
RAG1	Severe Combined Immune Deficiency/Primary Immune

RAG2	Severe Combined Immune Deficiency/Primary Immune
RMRP	Severe Combined Immune Deficiency/Primary Immune
SLC22A5	Primary carnitine deficiency
SLC25A13	Citrullinemia
SLC25A20	Carnitine-acylcarnitine translocase deficiency
SLC46A1	Severe Combined Immune Deficiency/Primary Immune
SMN1	Spinal Muscular Atrophy
SMN2	Spinal Muscular Atrophy
SMPD1	Niemann-Pick disease
STAT5B	Severe Combined Immune Deficiency/Primary Immune
TAT	Tyrosinemia
TBX1	Severe Combined Immune Deficiency/Primary Immune
WAS	Severe Combined Immune Deficiency/Primary Immune
ZAP70	Severe Combined Immune Deficiency/Primary Immune

Instrument Used

PT Data

QC Data

State Screening cutoffs/algorithm for each analyte

Daily Mean or Median or analytes

Outlier in uploaded analyte data

Biochemical Analytes (if applicable)

11-Deoxycortisol

17 α-Hydroxyprogesterone

20:0-Lysophosphatidylcholine

21-Deoxycortisol

22:0-Lysophosphatidylcholine

24:0-Lysophosphatidylcholine

26:0-Lysophosphatidylcholine

2-Methylcitric Acid

3-Hydroxyisovalerylcarnitine

4-Androstenedione

7-alpha, 12-alpha-dihydroxy-4-cholesten-3-one

Acetylcarnitine

Acid Sphingomyelinase

Acid α-Glucosidase

Adenosine

Alanine

Alloisoleucine

Arginine

Argininosuccinic acid

Arylsulfatase B

Biotinidase

Butyrylcarnitine

C18:0-sulfatide

C3DC+C4OH

Cholestane-3-beta, 5-alpha, 6-beta-triol

Citrulline

Cortisol

Creatine

Creatine Kinase MM dimere

Creatinine

Decadienoylcarnitine

Decanoylcarnitine

Decenoylcarnitine

Deoxyadenosine

Dermatan Sulfate

Dodecanoylcarnitine

Dodecanoylcarnitine

Ethylmalonic Acid

Free Carnitine

Galactocerebrosidase

Galactose-1-phosphate Uridyltransferase

Galactose-6-sulfate sulfatase

Glucose-6-phosphate Dehydrogenase

Glutamine

Glutarylcarnitine

Glycine

Guanidinoacetic Acid

Heparan Sulfamidase

Heparan Sulfate

Heparan-α-glucosaminide N-acetyltransferase

Hexanoylcarnitine

Hyaluronidase

Hydroxybutyrylcarnitine [derivatized]

Hydroxypalmitoylcarnitine

Hydroxystearoylcarnitine

Iduronate 2-sulfatase

Immunoreactive Trypsinogen

Isoleucine

Isovalerylcarnitine

Keratin Sulfate

Leucine

Linoleoylcarnitine

Low Acetylcarnitine

Low Free Carnitine

Lyso-Gb3

Malonic Acid

Malonylcarnitine [derivatized]

Methionine

Methylmalonic Acid

Myristoylcarnitine

N-acetylgalactosamine-4-sulfatase

N-acetylglucosamine 6-sulfatase

N-acetylglucosaminidase

N-acetyl-tyrosine

Octanoylcarnitine

Octenoylcarnitine

Oleoylcarnitine

Ornithine

Orotic Acid

Palmitoylcarnitine

Phenylalanine

Propionylcarnitine

Psychosine

Stearoylcarnitine

Succinylacetone

Taurochenodeoxycholic acid

Tetradecenoylcarnitine

Tetradecenoylcarnitine

Tetrol-glucuronide

Thyroid-Stimulating Hormone

Thyroxine

Tiglylcarnitine

Total Galactose

Total Homocysteine

Tripeptidyl peptidase

Tyrosine

Valine

α-Galactosidase

α-L-Iduronidase

α-N-acetylgalactosamine 6-sulfatase

β-galactosidase

β-Glucocerebrosidase

β-glucuronidase

Dates of diagnostic labs

Analyte values of diagnostic labs

Analyte cut-offs/reference range of diagnostic labs

Diagnostic molecular results

Diagnostic assay(s) done

Final Outcome (TP, FP, FN, etc.)

Diagnostic Test Result Interpretation

Diagnostic SNOMED Code

Diagnostic ICD10 Code

NewSteps Diagnosis with degree of confidence (e.g.,

definite, probable, possible)

Prenatal Testing Results

Treatment(s) Administered

Treatment prior to diagnostic labs (Y/N)