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

IllnessGM2-Gangliosidosis, AB variant

Request form illness

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)
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
GM2A582NM_000405.5AR

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