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

IllnessKennedy syndrome

Request form illness

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AR2763NM_000044.6XLR

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