IllnessGM2-Gangliosidosis, AB variant
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion GM2-Gangliosidosis, AB variant
ID
GS4453
Number of genes
1
Accredited laboratory test
Examined sequence length
0,6 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 | Referenz-Seq. | Heredity |
---|---|---|---|---|
GM2A | 582 | NM_000405.5 | AR |
Informations about the disease
Clinical Comment
Progressive neurological decline due to ganglioside activator deficiency
Synonyms
- Alias: AB variant GM2-gangliosidosis (GM2A)
- Alias: GM2 activator deficiency (GM2A)
- Alias: Hexosaminidase activator deficiency (GM2A)
- Alias: Tay-Sachs disease, AB variant (GM2A)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
E88.8
Bioinformatics and clinical interpretation
No text defined