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IllnessMutation confirmation diagnostics for metabolic disorders after newborn screening

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Summary

Short information

Comprehensive for confirmatory gene diagnostics concerning metabolic disorders after newborn screening comprising 19 guideline-curated core genes

ID
GP5550
Number of genes
19 Accredited laboratory test
Examined sequence length
26,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • Amniotic fluid (after amnocentesis)
  • Chorionic villus
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ACADM1266NM_000016.6AR
ACADVL1968NM_000018.4AR
BCKDHA1338NM_000709.4AR
BCKDHB1179NM_000056.5AR
BTD1572NM_001370658.1AR
CPT1A2322NM_001876.4AR
CPT21977NM_000098.3AD, AR
DBT1449NM_001918.5AR
DLD1530NM_000108.5AR
DNAJC12720NM_021800.3AR
FAH1260NM_000137.4AR
GALT1140NM_000155.4AR
GCDH1317NM_000159.4AR
GSTZ1651NM_145870.3AR
HADHA2292NM_000182.5AR
HADHB1425NM_000183.3AR
IVD1182NM_001159508.3AR
PAH1359NM_000277.3AR
SLC25A20906NM_000387.6AR

Informations about the disease

Synonyms
  • Allelic: Fatty liver, acute, of pregnancy (HADHA)
  • Allelic: HELLP syndrome, maternal, of pregnancy (HADHA)
  • Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
  • Biotinidase deficiency (BTD)
  • CPT II deficiency, infantile (CPT2)
  • CPT II deficiency, lethal neonatal (CPT2)
  • CPT II deficiency, myopathic, stress-induced (CPT2)
  • CPT deficiency, hepatic, type IA (CPT1A)
  • Carnitine-acylcarnitine translocase deficiency (SLC25A20)
  • Dihydrolipoamide dehydrogenase deficiency (DLD)
  • Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
  • Galactosemia (GALT)
  • Glutaricaciduria, type I (GCDH)
  • Hyperphenylalaninemia, mild, non-BH4-deficient (DNAJC12)
  • Hyperphenylalaninemia, non-PKU mild (PAH)
  • Isovaleric acidemia (IVD)
  • LCHAD deficiency (HADHA)
  • Maleylacetoacetate isomerase deficiency (GSTZ1)
  • Maple syrup urine disease, type II (DBT)
  • Maple syrup urine disease, type Ia (BCKDHA)
  • Maple syrup urine disease, type Ib (BCKDHB)
  • Mitochondrial trifunctional protein deficiency (HADHA)
  • Phenylketonuria (PAH)
  • Trifunctional protein deficiency (HADHB)
  • Tyrosinemia, type I (FAH)
  • VLCAD deficiency (ACADVL)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined