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

IllnessAlstrom syndrome

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Alstrom syndrome

ID
AS0520
Number of genes
1 Accredited laboratory test
Examined sequence length
12,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ALMS112504NM_015120.4AR

Informations about the disease

Clinical Comment

Progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy, progressive hepatic + renal dysfunction.

 

Synonyms
  • Alias: Alstrom syndrome, ALMS, ALSS
  • Cone-rod dystrophy, sensorineur. hearing loss, obesity, hyperinsulinemia, type 2 diab. mell. (ALMS1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined