IllnessKennedy syndrome
Summary
Short information
Curated analysis of the CAG repeat block in exon 1 of the AR gene
ID
KX0730
Number of genes
1
Accredited laboratory test
Examined sequence length
2,8 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
X
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
AR | 2763 | NM_000044.6 | XLR |
Informations about the disease
Clinical Comment
Motor neuron disease with proximal and bulbar muscle wasting
Synonyms
- Alias: Kennedy disease (AR_CAG)
- Alias: Spinal and bulbar muscular atrophy, SBMA (AR_CAG)
- Alias: X-linked bulbospinal muscular atrophy; XL BSMA (AR_CAG)
- Alias: XL spinal + bulbar muscular atrophy (AR_CAG)
Heredity, heredity patterns etc.
- XLR
OMIM-Ps
ICD10 Code
M62.59
Bioinformatics and clinical interpretation
No text defined