©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMorbus Fabry

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Morbus Fabry

ID
MS0270
Number of genes
1 Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-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

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GLA1290NM_000169.3XL

Informations about the disease

Clinical Comment

Fabry disease is a progressive, multisystemic lysosomal storage disorder characterised by neurological, cutaneous, cardiovascular, cochleo-vestibular and cerebrovascular symptoms. The clinical picture covers a wide spectrum, ranging from mild cases in heterozygous women to severe courses in classically affected hemicygous men with no residual activity of alpha-galactosidase A. These patients may have all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, renal insufficiency), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischaemic attacks, stroke) symptoms of the disease. Female patients can have very mild to severe symptoms. Fabry disease is caused by mutations in the GLA gene. A negative genetic finding practically rules out Fabry's disease.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1292/

 

Synonyms
  • Alias: Alpha-galactosidase A deficiency
  • Alias: Anderson-Fabry disease
  • Alias: Angiokeratoma corporis diffusum
  • Alias: Diffuse angiokeratoma
  • Fabry disease (GLA)
  • Fabry disease, cardiac variant (GLA)
Heredity, heredity patterns etc.
  • XL
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined