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
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)