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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessGilbert-Syndrom, unkonjugierte Hyperbilirubinämie

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Summary

Short information

MS5124_KI

ID
MS5124
Number of loci
Loci typeCount
Gen1
Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

MS5124_DH

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
UGT1A11602NM_000463.3AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_MS5124

 

Synonyms
  • Arias syndrome (Crigler-Najjar syndrome 2)
  • Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 (CNS1)/Type 2 (CNS2)
  • Bilirubin-UGT deficiency type 1 (Crigler-Najjar syndrome 1)/Type 2 (Crigler-Najjar syndrome 2)
  • Crigler-Najjar syndrome, type I (UGT1A1)
  • Crigler-Najjar syndrome, type II (UGT1A1)
  • Gilbert syndrome (UGT1A1)
  • Hereditary unconjugated hyperbilirubinemia type 1 (Crigler-Najjar syndrome 1)/type 2 (CNS2)
  • Hyperbilirubinaemia, familial transient neonatal (UGT1A1)
  • UGT deficiency type 1 (Crigler-Najjar syndrome 1)/Type 2 (Crigler-Najjar syndrome 2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined