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Cat DNA testing illustration

Gangliosidosis (GM2 Type II) – Cat All Breeds

Code: K309

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes.

General information

Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes. These mutations lead to a deficiency of an enzyme that is crucial for breaking down ganglioside GM2 in cells, especially in the brain. As a result, gangliosides build up in nerve cells, causing their dysfunction. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXB in all cat breeds.

Specifications

Breeds

All Breeds
Gene

HEXB
Chromosome

A1
Mutation

c.1467_1491inv25
Organ

Nervous System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

GM2, variant 0; Sandhoff

Clinical features

Cats affected with GM2 show progressive neuromuscular dysfunction and impaired growth from an early age. Affected kittens have head tremors at the beginning followed by impaired coordination of leg movements which eventually lead to paralysis.

References

Pubmed ID: 15081585

Year published: 2004

Omia ID: 1462

Omia variant ID:

Turnaround information

  • 15 working days