Deutsch
IllnessSpastic ataxias, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Spastic Ataxias comprising 1 guideline-curated and altogether11 curated genes according to the clinical signs
ID
SP9944
Number of genes
11
Accredited laboratory test
Examined sequence length
24,8 kb (Core-/Core-canditate-Genes)
32,2 kb (Extended panel: incl. additional genes)
32,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| AFG3L2 | 2394 | NM_006796.3 | AD, AR | |
| CHP1 | 619 | NM_007236.5 | AR | |
| KIF1C | 3312 | NM_006612.6 | AR | |
| MARS2 | 1782 | NM_138395.4 | AR | |
| MTPAP | 1749 | NM_018109.4 | AR | |
| NKX6-2 | 837 | NM_177400.3 | AR | |
| SACS | 13740 | NM_014363.6 | AR | |
| VAMP1 | 357 | NM_014231.5 | AD | |
| PEX16 | 1011 | NM_004813.4 | AR | |
| PNPLA6 | 3984 | NM_006702.5 | AR | |
| SPG7 | 2388 | NM_003119.4 | AD, AR |
Informations about the disease
Synonyms
- Alias: SPAX
- Spastic ataxia 1, AD (VAMP1)
- Spastic ataxia 2, AR (KIF1C)
- Spastic ataxia 3, AR (MARS2)
- Spastic ataxia 4, AR (MTPAP)
- Spastic ataxia 5, AR (AFG3L2)
- Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)
- Spastic ataxia 9, AR (CHP1)
- Spastic ataxia, Charlevoix-Saguenay type [SPAX6] (SACS)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined