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

IllnessFarber lipogranulomatosis

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Farber-Lipogranulomatosis

ID
FS5162
Number of genes
1 Accredited laboratory test
Examined sequence length
1,2 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
ASAH11188NM_177924.5AR

Informations about the disease

Clinical Comment

Subcutaneous tissue disease with spectrum of symptoms: classical triad of painful + progressively deformed joints, subcutaneous nodules, progressive hoarseness (laryngeal involvement) in infancy, varying phenotypes with respiratory + neurologic involvement

 

Synonyms
  • Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Farber disease (ASAH1)
  • Farber lipogranulomatosis (ASAH1)
  • N-Laurylsphingosine deacylase deficiency (ASAH1)
  • [Acid] Ceramidase deficiency (ASAH1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined