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

IllnessTay-Sachs disease

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Tay-Sachs disease

ID
TS0120
Number of genes
1 Accredited laboratory test
Examined sequence length
1,6 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
HEXA1590NM_000520.6AR

Informations about the disease

Clinical Comment

The most common form of Tay-Sachs disease begins in infancy, development is normal for the first few months, then slows down with muscle weakness, startle response and loss of motor skills. Seizures, vision and hearing loss as well as paralysis are characteristic together with the "cherry red spot" in the retina. Life expectancy is reduced to a few years for the classical form. Milder forms of M. Tay-Sachs are very rare and may occur in childhood, adolescence or adulthood. Mutations in the HEXA gene prevent the lysosomal degradation of GM2 gangliosides, whose accumulation destroys CNS neurons. Inheritance is autosomal recessive, expressivity is variable within limits. Practically all mutations are sequence deviations, very rarely deletions/duplications are identified. Thus, in a "typical clinic case" a suspected diagnosis can practically always be excluded by an inconspicuous finding.

(Basic diagnostic gene: HEXA)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1218/

 

Synonyms
  • Alias: B variant GM2 gangliosidosis (HEXA)
  • Alias: GM2-gangliosidosis, type I (HEXA)
  • Alias: HexA deficiency (HEXA)
  • Alias: Hexosaminidase A deficiency (HEXA)
  • Alias: Hexosaminidase alpha-subunit deficiency, variant B (HEXA)
  • Alias: Sphingolipidosis, Tay-Sachs (HEXA)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined