SCIENTIFIC BACKGROUND

ACADM, ACADVL, BCKDHA, BCKDHB, BTD, CFTR, CPT1A, CPT2, CYP21A2, DBT, DUOX2, FAH, GALT, GCDH, HADHA, HADHB, IVD, PAH, PAX8, SLC25A20, TSHR

Newborn screening is a preventive measure in the field of population medicine. It is used for the early detection and quality-assured treatment of all newborns with certain treatable endocrine, metabolic and immunological diseases. Genetic diagnostics can help to confirm the diagnosis from the screening examination. Since the affected enzyme/protein is already known from the screening result, the relevant genes are specifically investigated.

 

Disorders tested in newborn screening

Disorder Gene Inheritance pattern
Adrenogenital syndrome (AGS) CYP21A2 AR
Biotinidase deficiency BTD AR
Carnitine acylcarnitine translocase (CACT) deficiency SLC25A20 AR
Carnitine palmitoyltransferase 1A (CPT1A) deficiency CPT1A AR
Carnitine palmitoyltransferase 2 (CPT2) deficiency CPT2 AR
Cystic fibrosis (CF) CFTR AR
Galactosemia GALT AR
Glutaric aciduria type 1 (GA1) GCDH AR
Hypothyroidism, congenital DUOX2, PAX8, TSHR AD, AR
Isovaleric acidemia IVD AR
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency HADHA, HADHB AR
Maple syrup disease type Ia BCKDHA AR
Maple syrup disease type Ib BCKDHB AR
Maple syrup disease type II DBT AR
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency ACADM AR
Phenylketonuria / Hyperphenylalaninemia (PKU / HPA) PAH AR
Severe combined immunodeficiency (SCID) various genes AR, XLR
Tyrosinemia type 1 FAH AR
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency ACADVL AR

 

AD, autosomal dominant; AR, autosomal recessive; XLR, X-linked recessive

 

References

Nennstiel et al., AWMF Leitlinie 024/012 – Neugeborenen-Screening auf angeborene Stoffwechselstörungen und Endokrinopathien und Mucoviszidose, 2019 / Richtlinie des gemeinsamen Bundesausschusses über die Früherkennung bei Kindern bis zur Vollendung des 6. Lebensjahres ("Kinder-Richtline"), 2018

GENES
ACADM, ACADVL, BCKDHA, BCKDHB, BTD, CFTR, CPT1A, CPT2, CYP21A2, DBT, DUOX2, FAH, GALT, GCDH, HADHA, HADHB, IVD, PAH, PAX8, SLC25A20, TSHR
ASSOCIATED TESTS
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