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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
X
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
HTT | 9429 | AD |
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