Complete Screening Program
Complete screening panel including more than 70 Rare Diseases
The Baby Health Check program offers a comprehensive analysis as well as the added flexibility to personalize your screening panel. Your benefits of a personalized screening panel:
Access to testing for other important conditions – in addition to those offered by government screening programs
Faster identification of diseases in difficult cases (e.g. known family history of congenital diseases)
A team of experts to support you and your patients through the complex diagnostic process
The unique opportunity to contribute to newborn screening initiatives to expand testing for other treatable rare diseases
Feel free to contact us to discuss your personalized screening panel.
Amino Acid Disorders
Argininemia
Argininosuccinic acid syndrome
Citrullinemia, type I
Citrullinemia, type II
Phenylketonuria
Homocystinuria
Hypermethioninemia
Hyperphenylalaninemia
Maple syrup urine disease
Tyrosinemia, type I (succinylacetone) SUAC)
Tyrosinemia, type II
Fatty Acid Oxidation Disorders
Carnitine Transport deficiency
Carnitine Palmitoyl Transferase Type I, II deficiency
Carnitine Acylcarnitine Translocase deficiency (CACT)
Multiple Acyl-CoA-Dehydrogenase deficiency (MAD)
Short-Acyl-CoA-Dehydrogenase deficiency (SCAD)
Medium-Acyl-CoA-Dehydrogenase deficiency (MCAD)
Long-Acyl-CoA-Dehydrogenase deficiency (LCHAD)
Very Long-Acyl-CoA-Dehydrogenase deficiency (VLCHAD)
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
2,4 Dienoyl-CoA reductase deficiency
Mitochondrial trifunctional Protein (MTP, TFP) 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, 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 (ASMD)
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis IIIB
Mucopolysaccharidosis IVA
Mucopolysaccharidosis IVB
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
α-Mannosidase
Neuronal Ceroid Lipofuscinosis Type 1
Neuronal Ceroid Lipofuscinosis Type 2
Severe Combined Immunodeficiency (SCID)
T-Cell Immunodeficiencies
Endocrine Disorders
Primary congenital hypothyroidism
Congenital adrenal hyperplasia
Neuromuscular and Peroxisomal Disorders
5q-Spinal Muscular Atrophy
X-linked Adrenoleukodystrophy
Other Disorders
Biotinidase deficiency
Classic Galactosemia (Galactosemia Type I)
Glucose-6-phosphate dehydrogenase deficiency
Cystic Fibrosis
Sickle Cell Disease
Cerebrotinous Xanthomatosis (CTX)
Newsletter ARCHIMEDlife
Stay in touch with us! Get the latest information on screening for newborns with inborn errors of metabolism and rare diseases.
Subscribe to our newsletter
