CMSSpasticitySphynx

44,90

For Sphynx and Devon Rex

Tests turnaround : 3-6 days or Express 3 days
Breeds : Devon Rex, Sphynx
Samples : Buccal swab, or Blood in EDTA tube, or Blood in dry tube

Clear
SKU: cms-spasticity-sphynx-devonrex Category:
N/N : Normal, no copy of the CMS mutation. N/CMS : one copy of the CMS mutation, the cat may develop this disease. CMS/CMS : 2 copies of the CMS mutation, the cat may develop this disease.

What is CMSSpasticity ?

CMS is also known as Congenital Myasthenic Syndrome.

Cats affected by CMS generally dead at two years old by asphyxiation or pneumonia.

First disease signs can be observed at 3 weeks old and progress slowly. Symptoms are muscle weakness, especially after exertion, stress or excitement.

Predisposition according to the races

CMS test is only available for Sphynx and Devon Rex breeds.

Realization of the genetic test

The DNA test for detection of CMSSpasticity can be performed from 6 to 8 weeks. Like all genetic tests, this test is very reliable.
The test is usually performed from a buccal swab, fast and easy to perform.

Here is the list of the different types of samples that are accepted for this test :
  • Buccal swab
  • Blood in EDTA tube
  • Blood in dry tube

Understanding results of the test : CMS - Spasticity - Sphynx


N/N : Normal, no copy of the CMS mutation. N/CMS : one copy of the CMS mutation, the cat may develop this disease. CMS/CMS : 2 copies of the CMS mutation, the cat may develop this disease.
Test name : CMS - Spasticity - Sphynx
Gene Mutation : COLQ c.1190G>A
Heredity : autosomal recessive (more information)
Penetrance : complete (more information)
Test resultCMS - Spasticity - Sphynx status (COLQ c.1190G>A)Health status
N/NNo copy of the CMS mutationAnimal is normal (clear)
N/CMS1 copy of the CMS mutationAnimal is normal (clear)
CMS/CMS2 copies of the CMS mutationAnimal is, will or could be affected

Cross table of the test : CMS - Spasticity - Sphynx


Mother N/NMother N/CMSMother CMS/CMS
Father N/N100% N/N50% N/N
50% N/CMS
100% N/CMS
Father N/CMS50% N/N
50% N/CMS
25% N/N
50% N/CMS
25% CMS/CMS
50% N/CMS
50% CMS/CMS
Father CMS/CMS100% N/CMS50% N/CMS
50% CMS/CMS
100% CMS/CMS

Certificate example for the test : CMS - Spasticity - Sphynx

Click on the example certificate below to open it.

certificate

References

Gandolfi, Grahn, Creighton et al. COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet. 2015 Dec;46(6):711-5.

Abitbol, Hitte, Bossé,et al. A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PLoS One. 2015 Sep 1;10(9)

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