Targeted Disorders

With over 70 disorders detectable by Newborn Screening, Baby Health Check supports physicians and their young patients.

View our complete screening panel with 70+ disorders

Amino Acid Disorders

Argininemia
Argininosuccinic Aciduria
Citrullinemia, Type I
Citrullinemia, Type II
Classic Phenylketonuria
Homocystinuria

Hypermethioninemia
Benign hyperphenylalaninemia
Maple Syrup Urine Disease
Tyrosinemia, Type I (Succinylacetone; SUAC)
Tyrosinemia, Type II

Fatty Acid Oxidation Disorders

Carnitine Uptake Defect/Carnitine Transport Defect
Medium-chain Acyl-CoA dehydrogenase deficiency
Very long-chain Acyl-CoA dehydrogenase deficiency
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Short-chain acyl-CoA dehydrogenase deficiency

Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
2,4 Dienoyl-CoA reductase deficiency
Carnitine palmitoyltransferase Type I deficiency
Carnitine palmitoyltransferase Type II deficiency
Carnitine acylcarnitine translocase deficiency

Organic Acid Disorders

Propionic acidemia
Methylmalonic acidemia (methylmalonyl-CoA mutase)
Methylmalonic acidemia (Cobalamin disorders)
Isovaleric acidemia
3-Methylcrotonyl-CoA carboxylase deficiency
3-Hydroxy-3-methylglutaric aciduria
Holocarboxylase synthetase deficiency
ß-Ketothiolase deficiency
Glutaric acidemia Type I
Glutaric acidemia Type II

Methylmalonic acidemia with homocystinuria
Malonic acidemia
Isobutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
3-Methylglutaconic aciduria Type I
2-Methyl-3-hydroxybutyric aciduria
3-Methylglutaconic aciduria Type II, III, IV, V
Combined malonic and methylmalonic aciduria
Ornithine transcarbamylase deficiency

Lysosomal Storage Disorders

Fabry
Gaucher
Pompe
Krabbe
Niemann-Pick A / B
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis IIIB

Mucopolysaccharidosis IVA
Mucopolysaccharidosis IVB
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
α-Mannosidase
Neuronal Ceroid Lipofuscinosis 1
Neuronal Ceroid Lipofuscinosis 2

Severe Combined Immunodeficiencies

TREC and KREC testing for T- and B-Cell immunodeficiencies

Adenosine deaminase (ADA) deficiency

Endocrine Disorders

Primary congenital hypothyroidism

Congenital adrenal hyperplasia

Neuromuscular and Peroxisomal Disorders

5q-Spinal Muscular Atrophy

X-linked Adrenoleukodystrophy

Additional Disorders

Biotinidase deficiency
Classic Galactosemia (Galactosemia Type I)
Glucose-6-phosphate dehydrogenase deficiency

Cystic Fibrosis
Sickle Cell Disease
Cerebrotinous Xanthomatosis (CTX)