IllnessFucosidosis
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
FUCA1 | 1401 | AR |
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
E77.1
Bioinformatics and clinical interpretation
No text defined