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Affected Gene: HEXB
Transmission: Autosomal recessive

Mutation: CanFam3.1 2 g.57225684del c.391delG
OMIA Link: 001462-9615


Breeds Recommended for Testing: Poodle (all varieties)


Symptoms:
GM2 gangliosidosis (Poodle) is a lysosomal storage disorder. Affected dogs have a deficiency of the hexosaminidase B enzyme. Clinical symptoms of neurological disease typically appear between 9 and 12 months of age and include: Loss of vision, Difficulty walking, Loss of balance, Head tremors, Vomiting

Once symptoms begin, the disease progresses rapidly, and affected dogs typically die between 18 and 23 months of age.

The Standard Poodle is considered at risk for GM2 gangliosidosis due to its close genetic relationship with the Toy Poodle, but the mutation frequency in the Standard Poodle population remains unknown.


References:
Rahman MM, Chang HS, Mizukami K, Hossain MA, Yabuki A, Tamura S, Kitagawa M, Mitani S, Higo T, Uddin MM, Uchida K, Yamato O.
A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease).
Veterinary Journal. 2012 Dec;194(3):412-6.
DOI: 10.1016/j.tvjl.2012.05.021. PMID: 22766310.

GM2-Gangliosidosis Type II (Sandhoff or Variant 0) – Poodle

C$65.00Price

5 tests et + 55$ch.

Quantity

After your samples are received at the laboratory, please allow 10 to 15 business days for your results to be sent.

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