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

IllnessMorbus Fabry, differential diagnosis


Short information

A comprehensive differential diagnostic panel containing 4 guideline-curated genes as well as 3 additional curated gene according to the clinical suspicion

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
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

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/


  • Alias: Alpha-galactosidase A deficiency
  • Alias: Anderson-Fabry disease
  • Alias: Angiokeratoma corporis diffusum
  • Alias: Diffuse angiokeratoma
  • Allelic: Kanzaki disease (NAGA)
  • Adult-onset α-galactosidase B deficiency, Schindler disease (NAGA)
  • Adult-type β-galactosidase deficiency (GLB1)
  • Aspartylglucosaminuria (AGA)
  • Fabry disease (GLA)
  • Fabry disease, cardiac variant (GLA)
  • Fucosidosis (FUCA1)
  • Mannosidosis, beta (MANBA)
  • Schindler disease, type I (NAGA)
  • Schindler disease, type III (NAGA)
  • Sialidosis, type I (NEU1)
  • Sialidosis, type II (NEU1)
Heredity, heredity patterns etc.
  • XL
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined