Targeted Disorders

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

The Baby Health Check screening program delivers comprehensive analysis with the flexibility to personalize your screening program.

What are Your Benefits of a Personalized Screening Panel?

  • Access to Newborn Screening for more diseases in addition to those which may be provided by local screening programs
  • Faster disease identification in difficult cases (e.g. known family history of disease)
  • An expert team supporting you and your patients through sometimes complex diagnostics
  • A unique opportunity to contribute to newborn screening initiatives for the expansion of tests for other treatable Rare Diseases

View our complete screening panel with 70+ disorders

Amino Acid Disorders

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

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

Niemann-Pick A / B
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis IIIB

Mucopolysaccharidosis IVA
Mucopolysaccharidosis IVB
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
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)