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

IllnessSpinocerebellar ataxia 8 – SCA type 8

Summary

Short information

Repeat expansion analysis to clarify the clinical suspicion of an autosomal dominant cerebellar ataxia

ID
AX1121
Number of genes
1 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATXN80AD

Informations about the disease

Synonyms
  • Spinocerebellar ataxia 8 (ATXN8)
  • Spinocerebellar ataxia 8 (ATXN8OS)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined