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

IllnessFucosidosis

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Fucosidosis

ID
FS0808
Number of genes
1 Accredited laboratory test
Examined sequence length
1,5 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
FUCA11401NM_000147.5AR

Informations about the disease

Clinical Comment

Lysosomal storage disorder with highly variable phenotype, neurologic deterioration, coarse facial features, growth retardation + recurrent sinopulmonary infections, seizures, visceromegaly, angiokeratoma, dysostosis

 

Synonyms
  • Alias: Alpha-L-Fucosidase-Mangel (FUCA1)
  • Alias: Alpha-L-fucosidase deficiency (FUCA1)
  • Alias: Fucosidosis (FUCA1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined