Deutsch
IllnessMorbus Krabbe
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Morbus Krabbe
ID
MS1199
Number of genes
1
Accredited laboratory test
Examined sequence length
2,1 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 |
|---|---|---|---|
| GALC | 2058 | AR |
Informations about the disease
Clinical Comment
Lysosomal disorder affects white matter of the central/peripheral nervous systems; includes infantile, late-infantile/juvenile, adult forms
Synonyms
- Alias: GALC deficiency (GALC)
- Alias: Galactocerebrosidase deficiency (GALC)
- Alias: Galactosylceramide beta-galactosidase deficiency (GALC)
- Alias: Globoid cell leukencephalopathy (GALC)
- Alias: Globoid cell leukodystrophy (GALC)
- Alias: Krabbe disease (GALC)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
E74.0
Bioinformatics and clinical interpretation
No text defined