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Cat DNA testing illustration

Gangliosidosis (GM2 Type II) – Japanese Domestic

Code: K647

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 – 2) is a lysosomal storage disease in which there is a buildup of GM2 gangliosides (a type of glycolipid) in various tissues.

General information

Gangliosidosis (GM2 Type II – 2) is a lysosomal storage disease in which there is a buildup of GM2 gangliosides (a type of glycolipid) in various tissues.

This variant is for the Japanese Domestic cat breed.

Specifications

Breeds

Japanese domestic
Gene

HEXB
Chromosome

A1
Mutation

c.667C>T
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: 16872651

Year published: 2007

Omia ID: 1462

Omia variant ID:

Turnaround information

  • 15 working days