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Cat DNA testing illustration

Gangliosidosis (GM1) – Korat and Siamese

Code: K898

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 (GM1) is a fatal neurodegenerative disease.

General information

Gangliosidosis (GM1) is a fatal neurodegenerative disease. The lysosomal enzyme β-D-galactosidase cleaves terminal galactose residues from a variety of molecules. Due to a mutation the enzyme cannot be produced properly anymore, which leads to an accumulation of GM1 gangliosides (a type of glycolipid) in various tissues.

Specifications

Breeds

Korat, Siamese
Gene

GLB1
Chromosome

C2
Mutation

c.1448G>C
Organ

Muscles
Specimen

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

Autosomal Recessive
Also known as

GM1

Clinical features

The lack of the GM1 enzyme causes the lysosomal storage disease, which is characterised by progressive neuromuscular dysfunction and impaired growth starting at an early age.

Additional information

Specific breeds are undefined.

References

Pubmed ID: 18353697

Year published: 2008

Omia ID: 402

Omia variant ID:

Turnaround information

  • 15 working days