National Newborn Screening Status Report

Updated 09/06/12
The U.S. National Screening Status Report lists the status of newborn screening in the United States.
Dot " " indicates that screening for the condition is universally required by Law or Rule and fully implemented

A = universally offered but not yet required, B = offered to select populations, or by request, C = testing required but not yet implemented
D = likely to be detected (and reported) as a by-product of MRM screening (MS/MS) targeted by Law or Rule Core1 Conditions
STATE Alabama Alaska Arizona Arkansas California Colorado Connecticut D.C. Delaware Florida Georgia Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Hampshire New Jersey New Mexico New York North Carolina North Dakota Ohio Oklahoma Oregon Pennsylvania Rhode Island South Carolina South Dakota Tennessee Texas Utah Vermont Virginia Washington West Virginia Wisconsin Wyoming
1 2

Hearing HEAR

Endocrine
CH CAH S/S

Hemoglobin
S/A S/C BIO GALT

Other
CF CCHD SCID

Additional Conditions Included in Screening Panel (universally required unless otherwise indicated)

A B A C B A A

B A HHH; PRO; EMA ; [OTC, MTHFR] (D) HHH; HIV 2 ; NKH G6PD C

[Pompe,Krabbe, Niemann-Pick, MPS I, MPS II Gaucher, Fabry] (C) CPS (D), NKH, 5-OXO, HIV 2

B A A C C HHH; CPS (D) EMA TOXO; HHH(A), CPS

5-OXO; CPS; HHH [Pompe, Krabbe, Niemann-Pick, Gaucher, Fabry (C in July 2012)] 5-OXO; HHH; NKH (A) TOXO

A B A

B A

HIV; HHH; Krabbe Disease HHH; NKH

B B C A C B B HHH; NKH 5-OXO; CPS; G6PD; HHH; NKH (B)

C C

Terminology consistent with ACMG report - Newborn Screening: Towards a Uniform Screening Panel and System. Genet Med. 2006; 8(5) Suppl: S12-S252 Newborn screened for HIV only if mother was not screened during pregnancy

Additional Conditions/Abbreviations and Names

BIO CAH Biotinidase Congenital adrenal hyperplasia CF CH Cystic fibrosis Congenital hypothyroidism GALT HB S/S Transferase deficient galactosemia (Classical) Sickle cell anemia HB S/C HB S/A Sickle C disease S-eta thalassemia HEAR SCID Hearing screening Severe Combined Immunodeficiency

Other Disorders
5-OXO CPS EMA CCHD 5-oxoprolinuria (pyroglutamic aciduria) Carbamoylphosphate synthetase Ethylmalonic encephalopathy Critical Congenital Heart Disease G6PD HHH HIV Glucose 6 phosphate dehydrogenase Hyperammonemia/ornithinemia/ citrullinemia (Ornithine transporter defect) Human immunodeficiency virus NKH PRO TOXO Nonketotic hyperglycinemia Prolinemia Toxoplasmosis

Copyright 2012 UTHSCSA

National Newborn Screening Status Report Page 2 - Updated 09/06/12

Dot " " indicates that screening for the condition is universally required by Law or Rule and fully implemented
A = universally offered but not yet required, B = offered to select populations, or by request, C = testing required but not yet implemented
D = likely to be detected (and reported) as a by-product of MRM screening (MS/MS) targeted by Law or Rule Core1 Conditions - Metabolic
Fatty Acid Disorders
LCHAD VLCAD MCAD STATE CUD HMG GA-I TFP

Organic Acid Disorders

Cbl-A,B 3-MCC PROP MCD MUT BKT ASA IVA

Amino Acid Disorders

TYR- I MSUD HCY PKU CIT

Alabama Alaska Arizona Arkansas California Colorado Connecticut D. of Columbia Delaware Florida Georgia Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Hampshire New Jersey New Mexico New York North Carolina North Dakota Ohio Oklahoma Oregon Pennsylvania Rhode Island South Carolina South Dakota Tennessee Texas Utah Vermont Virginia Washington West Virginia Wisconsin Wyoming

Terminology consistent with ACMG report - Newborn Screening: Towards a Uniform Screening Panel and System. Genet Med. 2006; 8(5) Suppl: S12-S252

Deficiency/Disorder Abbreviations and Names (optional nomenclature)

3-MCC ASA BKT

3-Methylcrotonyl-CoA carboxylase Argininosuccinate aciduria Beta ketothiolase (mitochondrial acetoacetyl-CoA thiolase ; short-chain ketoacyl thiolase; T2) Methylmalonic acidemia (Vitamin B12 Disorders) Citrullinemia type I (Argininosuccinate synthetase)

CUD GA-1 HCY

Carnitine uptake defect (Carnitine transport defect) Glutaric acidemia type 1 Homocystinuria (cystathionine beta synthase) 3-Hydroxy 3 - methylglutaric aciduria (3-Hydroxy 3methylglutaryl-CoA lyase ) Isovaleric acidemia (IsovalerylCoA dehydrogenase )

LCHAD MCAD MCD

CBL A,B

HMG

MSUD

CIT I

IVA

MUT

Long-chain L-3- hydroxyacylCoA dehydrogenase Medium-chain acyl-CoA dehydrogenase Multiple carboxylase (Holocarboxylase synthetase ) Maple syrup urine disease (branched-chain ketoacid dehydrogenase ) Methylmalonic Acidemia (methylmalonyl-CoA mutase)

PKU PROP TFP

Phenylketonuria/ hyperphenylalaninemia Propionic acidemia (PropionylCoA carboxylase) Trifunctional protein deficiency Tyrosinemia Type 1 Very long-chain acyl-CoA dehydrogenase

TYR-1

VLCAD

Copyright 2012 UTHSCSA

National Newborn Screening Status Report

Page 3 - Updated 09/06/12
Dot " " indicates that screening for the condition is universally required by Law or Rule and fully implemented A = universally offered but not yet required, B = offered to select populations, or by request, C = testing required but not yet implemented D = likely to be detected (and reported) as a by-product of MRM screening (MS/MS) targeted by Law or Rule

Secondary Target 1 Conditions

Fatty Acid Disorders
M/SCHAD

Organic Acid Disorders

2M3HBA MCKAT Cbl-C,D BIOPTBS SC AD 3MGA 2MBG GA-II MAL ARG IBG

Amino Acid Disorders

TYR- III TYR- II BIOPTRG H-PHE CIT-II MET

Other Metabolic
GALK B GALE

Hbg
Variant Hbgs D D A

Alabama Alaska Arizona Arkansas California Colorado Connecticut D. of Columbia Delaware Florida Georgia Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Hampshire New Jersey New Mexico New York North Carolina North Dakota Ohio Oklahoma Oregon Pennsylvania Rhode Island South Carolina South Dakota Tennessee Texas Utah Vermont Virginia Washington West Virginia Wisconsin Wyoming

DE-RED.

CPT- II

CPT-Ia

STATE CACT

B D D D D D D D

B D D D

D D

D D D D D D D D

D D D

D D

D D D

D D

D D

D D

A D D A B B D

A D D D B B D D D D D D D B B B B B B

A D D

A D D

A D

A D D

A D D

A D

A D

A A

D A

D A

A D

B D A

B D A D D B D B

D A

D D D A

D D D

D D

D D

D D

D D

D D

D D

D D

D D D

D D D A

D D D A

D D

D D B D B

D D D A A

D D D A

D D

D D B B

D B D B D D B B B B B D B B B D B D B D B B B B B B B B D B B B

D D D D D

D D D D

D D D D D

D D D D D

D C D D D D

D D D D D

D D D

D D D D D D

C D

C D

D D D D D

D D D D

D D D D

D D D

D D D

D D D

D D

D D

Terminology consistent with ACMG report - Newborn Screening: Towards a Uniform Screening Panel and System. Genet Med. 2006; 8(5) Suppl: S12-S252

Deficiency/Disorder Abbreviations and Names (optional nomenclature)

2M3HBA 2MBG 3MGA ARG BIOPT-BS BIOPTREG 2-Methyl-3-hydroxy butyric aciduria 2-Methylbutyryl-CoA dehydrogenase 3-Methylglutaconic aciduria Argininemia (Arginase deficiency) Defects of biopterin cofactor biosynthesis Defects of biopterin cofactor regeneration CACT CBL-C,D CIT-II CPT-Ia CPT-II De-Red Carnitine acylcarnitine translocase Methylmalonic acidemia (Cbl C,D) Citrullinemia type II Carnitine palmitoyltransferase I Carnitine palmitoyltransferase II Dienoyl-CoA reductase GA-II GALE GALK H-PHE IBG M/SCHAD Glutaric acidemia Type II Galactose epimerase Galactokinase Benign hyperphenylalaninemia Isobutyryl-CoA dehydrogenase Medium/Short chain L-3-hydroxy acyl-CoA dehydrogenase MAL MCKAT MET SCAD TYR-II TYR-III Malonic acidemia (Malonyl-CoA decarboxylase) Medium-chain ketoacyl-CoA thiolase Hypermethioninemia Short-chain acyl-CoA dehydrogenase Tyrosinemia type II Tyrosinemia type III

Copyright 2012 UTHSCSA