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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 implementedD = likely to be detected (and reported) as a by-product of MRM screening (MS/MS) targeted by Law or Rule

STATE

Core1

Conditions Additional Conditions Included inScreening Panel (universally required

unless otherwise indicated)Hearing Endocrine Hemoglobin OtherHEAR CH CAH S/S S/A S/C BIO GALT CF CCHD SCID

Alabama

Alaska

Arizona A B

Arkansas California B A HHH; PRO; EMA ; [OTC, MTHFR] (D)Colorado A Connecticut C HHH; HIV ; NKH

D.C. G6PDDelaware B C

Florida Georgia A

Hawaii daho A

llinois C[Pompe,Krabbe, Niemann-Pick, MPS I, MP

Gaucher, Fabry] (C) CPS (D), NKH, 5-OXO, H

ndiana

owa Kansas

Kentucky B

Louisiana

Maine A HHH; CPS (D)

Maryland EMA

Massachusetts A TOXO; HHH(A), CPS

Michigan

Minnesota C

Mississippi C 5-OXO; CPS; HHH

Missouri [Pompe, Krabbe, Niemann-Pick, Gaucher, F

(C in July 2012)]

Montana Nebraska A 5-OXO; HHH; NKH (A)

Nevada B

New Hampshire A TOXONew Jersey

New Mexico

New York B HIV; HHH; Krabbe DiseaseNorth Carolina

North Dakota A HHH; NKH

Ohio

Oklahoma

Oregon B

Pennsylvania B 5-OXO; CPS; G6PD; HHH; NKH (B)

Rhode Island C

South Carolina

South Dakota A Tennessee C HHH; NKH

Texas B BUtah

Vermont Virginia

Washington A CWest Virginia C

Wisconsin

Wyoming 1Terminology consistent with ACMG report - Newborn Screening: Towards a Uniform Screening Panel and System.Genet Med. 2006; 8(5) Suppl: S12-S2522Newborn screened for HIV only if mother was not screened during pregnancy

Additional Conditions/Abbreviations and Names

BIO Biotinidase CF Cystic fibrosis GALTTransferase deficientgalactosemia (Classical)

HB S/C Sickle C disease HEAR Hearing screening

CAH Congenital adrenal hyperplasia CHCongenitalhypothyroidism

HB S/S Sickle cell anemia HB S/A S-eta thalassemia SCIDSevere CombinedImmunodeficiency

Other Disorders

5-OXO 5-oxoprolinuria (pyroglutamic aciduria) G6PD Glucose 6 phosphate dehydrogenase NKH Nonketotic hyperglycinemia

CPS Carbamoylphosphate synthetase HHHHyperammonemia/ornithinemia/ citrullinemia (Ornithinetransporter defect)

PRO Prolinemia

EMA Ethylmalonic encephalopathy HIV Human immunodeficiency virus TOXO Toxoplasmosis

CCHD Critical Congenital Heart Disease

Copyright 2012 UTHSCSA

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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 implementedA = 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

STATE

Core1Conditions - Metabolic

Fatty Acid Disorders Organic Acid Disorders Amino Acid Disorders

CU

D

LCH

AD

MCAD

TF

P

VLC

AD

GA

-I

HM

G

IV

A

3-M

CC

Cbl-A,B

BK

T

MU

T

PROP

MC

D

AS

A

CI

T

HC

Y

MSUD

PK

U

TYR

-I

Alabama Alaska Arizona Arkansas California Colorado Connecticut

D. of Columbia Delaware

Florida

Georgia

Hawaii

Idaho

Illinois

Indiana Iowa Kansas Kentucky Louisiana Maine Maryland

Massachusetts D D D

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 D West Virginia Wisconsin Wyoming

1

Terminology consistent with ACMG report - Newborn Screening: Towards a Uniform Screening Panel and System.Genet Med. 2006; 8(5) Suppl: S12-S25

Deficiency/Disorder Abbreviations and Names (optional nomenclature)

3-MCC 3-Methylcrotonyl-CoA carboxylase CUDCarnitine uptake defect(Carnitine transport defect)

LCHADLong-chain L-3- hydroxyacyl-CoA dehydrogenase

PKUPhenylketonuria/hyperphenylalaninemia

ASA Argininosuccinate aciduria GA-1 Glutaric acidemia type 1 MCADMedium-chain acyl-CoAdehydrogenase

PROPPropionic acidemia (PropionCoA carboxylase)

BKTBeta ketothiolase (mitochondrial acetoacetyl-CoAthiolase ; short-chain ketoacyl thiolase; T2)

HCYHomocystinuria (cystathionineeta synthase)

MCDMultiple carboxylase(Holocarboxylase synthetase )

TFP Trifunctional protein deficie

CBL A,BMethylmalonic acidemia(Vitamin B12 Disorders)

HMG

3-Hydroxy 3 - methylglutaricaciduria (3-Hydroxy 3-methylglutaryl-CoA lyase )

MSUD

Maple syrup urine disease(branched-chain ketoaciddehydrogenase )

TYR-1 Tyrosinemia Type 1

CIT ICitrullinemia type I(Argininosuccinate synthetase)

IVAIsovaleric acidemia (Isovaleryl-CoA dehydrogenase )

MUTMethylmalonic Acidemia(methylmalonyl-CoA mutase)

VLCADVery long-chain acyl-CoAdehydrogenase

Copyright 2012 UTHSCSA

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National Newborn Screening Status ReportPage 3 - Updated 09/06/12

Dot " " indicates that screening for the condition is universally required by Law or Rule and fully implementedA = 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

1Terminology 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)

2M3HBA2-Methyl-3-hydroxy

butyric aciduriaCACT Carnitine acylcarnitine translocase GA-II

Glutaric acidemia

Type IIMAL

Malonic acidemia

(Malonyl-CoA decarboxyl

2MBG2-Methylbutyryl-CoA

dehydrogenase

CBL-C,D Methylmalonic acidemia

(Cbl C,D)GALE Galactose epimerase MCKAT

Medium-chain ketoacyl-C

thiolase

3MGA3-Methylglutaconic

aciduriaCIT-II Citrullinemia type II GALK Galactokinase MET Hypermethioninemia

ARGArgininemia

(Arginase deficiency)CPT-Ia Carnitine palmitoyltransferase I H-PHE Benign hyperphenylalaninemia SCAD

Short-chain acyl-CoA

dehydrogenase

BIOPT-BSDefects of biopterin

cofactor biosynthesisCPT-II Carnitine palmitoyltransferase II IBG Isobutyryl-CoA dehydrogenase TYR-II Tyrosinemia type II

BIOPT-

REG

Defects of biopterin

cofactor regenerationDe-Red Dienoyl-CoA reductase M/SCHAD

Medium/Short chain L-3-hydroxy

acyl-CoA dehydrogenaseTYR-III Tyrosinemia type III

Copyright 2012 UTHSCSA

STATE

Secondary Target1

Conditions

Fatty Acid Disorders Organic Acid Disorders Amino Acid DisordersOther

MetabolicHb

CACT

CPT-Ia

CPT-II

DE-RED.

GA-II

MCKAT

M/SCHAD

SCAD

2M3HBA

2MBG

3MGA

Cbl-C,D

IBG

MAL

ARG

BIOPT-

BS

BIOPT-

RG

CIT-II

H-PHE

MET

TYR-II

TYR-III

GALE

GALK

Variant

Alabama Alaska B B D B BArizona D D D D D D D D D D D DArkansas

California Colorado Connecticut D. of Columbia A A Delaware D D D D D Florida D D D D D D D D D DGeorgia D D D D D D D D D D D D D A D D D D D B BHawaii B B B BIdaho B B B BIllinois D D D D D D D Indiana Iowa Kansas

Kentucky A A A A A A A A A A A D D A A A ALouisiana Maine D D D D D D D Maryland B B Massachusetts D D A A D D A D D D D D A D D A D D D D D D DMichigan D Minnesota Mississippi A A A A A AMissouri Montana D D D D D D D D D D D D D D D D D DNebraska D D D D D D D D D D D D D D D D D D D D DNevada B B B B ANew Hampshire D D D D D D D D DNew Jersey New Mexico A D A A A D D A A D D D B B A A A A D B BNew York North Carolina North Dakota

Ohio Oklahoma D Oregon D D D D D D B B D B BPennsylvania B B B B B B B B B B B B B B B B B B BRhode Island D South Carolina South Dakota Tennessee D Texas D D D C D C C C D D D D C C C D D D D D D

Utah D D D Vermont D D D D D D D D D D Virginia D D D D D D D D D D D D D D D D D DWashington D D D D D D D D D D D DWest Virginia D D D D D D D D D D D D D D D D D D D D DWisconsin Wyoming