IllnessARSACS, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for AR spastic ataxia, Charlevoix-Saguenay type, containing 3 guideline-curated genes and altogether 7 curated genes according to the clinical signs
ID
AP9223
Number of genes
7
Accredited laboratory test
Examined sequence length
16,8 kb (Core-/Core-canditate-Genes)
27,4 kb (Extended panel: incl. additional genes)
27,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS + X
Gene panel
Informations about the disease
Synonyms
- Spastic ataxia, Charlevoix-Saguenay type (SACS)
- Alias: AR Spastic Ataxia Type 6 (SACS)
- Alias: AR Spastic Ataxia of Charlevoix-Saguenay (SACS)
- Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
- Abetalipoproteinemia (MTTP)
- Allelic: Metabolic syndrome, protection against (MTTP)
- Ataxia with isolated vitamin E deficiency (TTPA)
- Friedreich ataxia (FXN)
- Friedreich ataxia with retained reflexes (FXN)
- NESCAV syndrome (KIF1A)
- Spastic paraplegia 30, AD (KIF1A)
- Spastic paraplegia 30, AR (KIF1A)
- Spastic paraplegia 7, AR (SPG7)
- Troyer syndrome (SPART)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined