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7/30/2019 Nbs Disorders
1/3
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
7/30/2019 Nbs Disorders
2/3
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
7/30/2019 Nbs Disorders
3/3
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