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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGilbert-[Meulengracht-]Syndrom, unkonjugierte Hyperbilirubinämie

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Summary

Short information

MS5123_KI

ID
MS5123
Number of loci
Loci typeCount
Gen1
Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
1,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

MS5123_DH

 

Loci panel

Gen

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

Informations about the disease

Clinical Comment

illness_ClinicalComment_MS5123

 

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
ICD10 Code

Bioinformatics and clinical interpretation

No text defined