Deutsch
IllnessNeuropathy, hereditary sensory and autonomous - HSN/HSAN
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Neuropathy, hereditary sensoric and autonomous
ID
NS1233
Number of genes
1
Accredited laboratory test
Examined sequence length
1,7 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
NGS +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ATL1 | 1677 | NM_015915.5 | AD |
Informations about the disease
Clinical Comment
Slowly progressive with predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, juvenile or adulthood disease onset
Synonyms
- Alias: Hereditary sensory + autonomic neuropathy type I, HSAN1
- Allelic: Spastic paraplegia 3A, AD (ATL1)
- Neuropathy, hereditary sensory, type ID (ATL1)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
G60.-
Bioinformatics and clinical interpretation
No text defined