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Dog DNA testing illustration

Gangliosidosis (GM2 Type II) – Poodle Type

Code: H490

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 and death. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXB in the poodle. A related mutation of this gene is found in the Shiba Inu.

Specifications

Breeds

Poodle (Standard), Poodle (Toy)
Gene

HEXB
Chromosome

2
Mutation

c.283delG
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

Dogs affected with Gangliosidosis can show a variety of symptoms including lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM2-0: tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age.

References

Pubmed ID: 22766310

Year published: 2012

Omia ID: 1462

Omia variant ID:

Turnaround information

  • 15 working days