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Dog DNA testing illustration

Gangliosidosis (GM2, Sandhoff Disease) – Shiba Inu

Code: H297

74,72 €

Sample details

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

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Short description

Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth.

General information

Gangliosidosis is a type of metabolic disorder that affects the muscles and nervous system, causing progressive dysfunction and impaired growth. This form of the disorder analysed in this test, known as gangliosidosis (GM2, Sandhoff Disease), is caused by a recessive mutation to the gene HEXB. This variant is found in the Shiba Inu. A related variant has also been observed in the Toy Poodle. The disorder is progressive and severe.

Specifications

Breeds

Shiba Inu
Gene

HEXB
Chromosome

2
Mutation

c.618_620delCCT
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

Affected dogs begin presenting signs of neurological degeneration around the age of 12 months. Signs can include tremors, a lowered tail, decreased appetite, less responsiveness to verbal commands, and ataxia (loss of coordination), which can lead to an inability to jump or walk properly. The disease is progressive and likely to be fatal, and euthanasia on humane grounds may be necessary.

References

Pubmed ID: 28833537

Year published: 2017

Omia ID: 1462

Omia variant ID:

Turnaround information

  • 15 working days