IllnessMorbus Huntington

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Summary

Short information

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

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

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
HTT	9429	613004	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.

OMIM-Ps

143100

ICD10 Code

G10

Bioinformatics and clinical interpretation

No text defined