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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessGilbert [Meulengracht] syndrome, unconjugated hyperbilirubinemia

Summary

Short information

Exclusive curated analysis of the promotor repeat A(TA)6-7TAA in the UGTA1A gene with suspected Gilbert-[Meulengracht] syndrome

ID
MS5123
Number of genes
1 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
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

X (UGT1A1 promotor analysis)

 

Gene panel

Selected genes

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

Informations about the disease

Clinical Comment

In the German-speaking medical world, terms such as Morbus Meulengracht, Meulengracht syndrome or Gilbert-Meulengracht syndrome (German ICD-10 80.4) are often used for a clinical picture that is largely uniformly referred to as "Gilbert syndrome" in other countries. Gilbert syndrome results in benign, chronic, stable or intermittent, unconjugated hyperbilirubinaemia; no structural liver disease or haemolysis is present. Gilbert's syndrome is the most common disorder of bilirubin metabolism in the liver and also often causes neonatal jaundice.

Laboratory data:

Crigler-Najjar syndrome type 1: total serum bilirubin 20-45mg/dL [complete UGT1A1 deficiency].

Crigler-Najjar syndrome type 2: total serum bilirubin 6-20mg/dL [<20% UGT1A1 activity].

DD: Gilbert syndrome/M. Meulengracht: total serum bilirubin 1-6mg/dL [UGT1A1 promoter deficiency].

 

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