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

IllnessMorbus Huntington

Summary

Short information

Curated analysis of the CAG trinucleotide repeat block in exon 1 of the HTT gene

ID
MX0100
Number of genes
1 Accredited laboratory test
Examined sequence length
9,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
HTT9429AD

Informations about the disease

Clinical Comment

Neurodegenerative disorder of the central nervous system with involuntary choreatic movements, behavioral + psychiatric disturbances, sometimes dementia

 

Synonyms
  • Alias [obsolet]: Erblicher Veitstanz
  • Alias [obsolete]: "Chorea" Huntington
  • Alias: Huntingtin [HTT, IT15, HD] gene
  • Allelic: Lopes-Maciel-Rodan syndrome, AR [extremely rare, 4 cases] (HTT)
  • Huntington disease, HD (HTT)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code
G10

Bioinformatics and clinical interpretation

No text defined