Vermont State Profile

Recommended Uniform Screening Panel

Core Conditions (35 of 35 conditions listed on the RUSP are Universally Screened)

Every state performs newborn screening for hearing loss, however not all states are mandated to do so. These numbers reflect state mandated screening for early hearing loss.

The core conditions presented are those listed on the Advisory Committee for Heritable Disorders in Newborns and Children Recommended Uniform Screening Panel (RUSP) and are disorders that should be included in every Newborn Screening Program. Current information for each disorder, along with the dates of implementation can be updated by individuals within each state screening program.

Amino Acid Disorders

Argininosuccinic aciduria - ASA

Universally Screened Required by law or rule

Citrullinemia, type I - CIT

Universally Screened Required by law or rule

Classic phenylketonuria - PKU

Universally Screened Required by law or rule

Homocystinuria - HCY

Universally Screened Required by law or rule

Maple syrup urine disease - MSUD

Universally Screened Required by law or rule

Tyrosinemia, type I - TYR I

Universally Screened Required by law or rule

Endocrine Disorders

Congenital adrenal hyperplasia - CAH

Universally Screened Required by law or rule

Congenital hypothyroidism - CH

Universally Screened Required by law or rule

Fatty Acid Disorders

Carnitine uptake defect/carnitine transport defect - CUD

Universally Screened Required by law or rule

Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency - LCHAD

Universally Screened Required by law or rule

Medium-chain acyl-CoA dehydrogenase deficiency - MCAD

Universally Screened Required by law or rule

Trifunctional protein deficiency - TFP

Universally Screened Required by law or rule

Very long-chain acyl-CoA dehydrogenase deficiency - VLCAD

Universally Screened Required by law or rule

Hemoglobin Disorders

S, Beta + thalassemia - Hb S/B+ Th

Universally Screened Required by law or rule

S,C disease - Hb S/C

Universally Screened Required by law or rule

S,S disease (Sickle cell anemia) - Hb SS

Universally Screened Required by law or rule

Lysosomal Storage Disorders

Mucopolysaccharidosis I - MPS I

Universally Screened Required by law or rule

Proposed/Actual Implementation Date for Universal Screening:
5/2019

Pompe

Universally Screened Required by law or rule

Proposed/Actual Implementation Date for Universal Screening:
5/2019

Organic Acid Disorders

3-Hydroxy-3-methyglutaric aciduria - HMG

Universally Screened Required by law or rule

3-Methylcrotonyl-CoA carboxylase deficiency - 3-MCC

Universally Screened Required by law or rule

Beta-Ketothiolase deficiency - BKT

Universally Screened Required by law or rule

Glutaric acidemia type I - GA1

Universally Screened Required by law or rule

Holocarboxylase synthase deficiency - MCD

Universally Screened Required by law or rule

Isovaleric acidemia - IVA

Universally Screened Required by law or rule

Methylmalonic acidemia (cobalamin disorders) - Cbl A,B

Universally Screened Required by law or rule

Methylmalonic acidemia (methylmalonyl-CoA mutase) - MUT

Universally Screened Required by law or rule

Propionic acidemia - PROP

Universally Screened Required by law or rule

Other Disorders

Biotinidase deficiency - BIOT

Universally Screened Required by law or rule

Classic galactosemia - GALT

Universally Screened Required by law or rule

Critical congenital heart disease - CCHD

Universally Screened Required by law or rule

Proposed/Actual Implementation Date for Universal Screening:
7/2016

Cystic fibrosis - CF

Universally Screened Required by law or rule

Hearing loss - HEAR

Universally Screened Required by law or rule

Severe Combined Immunodeficiencies - SCID

Universally Screened Required by law or rule

Proposed/Actual Implementation Date for Universal Screening:
7/2016

Spinal Muscular Atrophy - SMA

Universally Screened Required by law or rule

Proposed/Actual Implementation Date for Universal Screening:
5/2019

X-linked Adrenoleukodystrophy

Universally Screened Required by law or rule

Proposed/Actual Implementation Date for Universal Screening:
5/2019

Recommended Uniform Screening Panel

Secondary Conditions

The secondary conditions presented are those listed on the Advisory Committee for Heritable Disorders in Newborns and Children Recommended Uniform Screening Panel (RUSP) as disorders that can be detected in the differential diagnosis of a core disorder. Current information for each disorder, along with the dates of implementation can be updated by individuals within each state screening program.

Amino Acid Disorders

Argininemia - ARG

Universally Screened Required by law or rule

Benign hyperphenylalaninemia - H-PHE

Likely to be detected and reported due to universal screening of another disorder

Biopterin defect in cofactor biosynthesis - BIOPT (BS)

Likely to be detected and reported due to universal screening of another disorder

Biopterin defect in cofactor regeneration - BIOPT (RG)

Likely to be detected and reported due to universal screening of another disorder

Citrullinemia, type II - CIT II

Likely to be detected and reported due to universal screening of another disorder

Hypermethioninemia - MET

Likely to be detected and reported due to universal screening of another disorder

Tyrosinemia, type III - TYR III

Likely to be detected and reported due to universal screening of another disorder

Tyrosinemia, type II - TYR II

Likely to be detected and reported due to universal screening of another disorder

Fatty Acid Disorders

2,4 Dienoyl-CoA reductase deficiency - DE RED

Universally Screened Not required by law or rule

Carnitine acylcarnitine translocase deficiency - CACT

Universally Screened Not required by law or rule

Carnitine palmitoyltransferase type I deficiency - CPT IA

Likely to be detected and reported due to universal screening of another disorder

Carnitine palmitoyltransferase type II deficiency - CPT II

Universally Screened Not required by law or rule

Glutaric acidemia type II - GA2

Likely to be detected and reported due to universal screening of another disorder

Medium-chain ketoacyl-CoA thiolase deficiency - MCKAT

Likely to be detected and reported due to universal screening of another disorder

Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency - M/SCHAD

Universally Screened Not required by law or rule

Short-chain acyl-CoA dehydrogenase deficiency - SCAD

Likely to be detected and reported due to universal screening of another disorder

Hemoglobin Disorders

S, Beta 0-thalassemia - Hb S/B0Th

Not Screened

Various other hemoglobinopathies - Var Hb

Likely to be detected and reported due to universal screening of another disorder

Organic Acid Disorders

2-Methyl-3-hydroxybutyric aciduria - 2M3HBA

Likely to be detected and reported due to universal screening of another disorder

2-Methylbutyrylglycinuria - 2MBG

Likely to be detected and reported due to universal screening of another disorder

3-Methylglutaconic aciduria - 3MGA

Likely to be detected and reported due to universal screening of another disorder

Isobutyrylglycinuria - IBG

Likely to be detected and reported due to universal screening of another disorder