GSD IVGlycogen Storage Disease type IV

44,90

Specific test in Norwegian Forest Cats

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

Clear
SKU: gsd-iv-glycogen-storage-disease-type-iv-norwegian-cats Category:
N/N : Normal, no copy of the GSD IV mutation. N/GSD IV : one copy of the GSD IV mutation, the cat may develop this disease. GSD IV/GSD IV : 2 copies of the GSD IV mutation, the cat may develop this disease.

What is GSD IVGlycogen Storage Disease type IV ?

Glycogen storage diseases (GSD) are a group of diseases of glycogen metabolism that result from glycogen accumulation in different tissues.
The sugars from the diet are stored as glycogen in the cells.
During exercise, this glycogen is converted into energy used by the muscles through the action of different enzymes.
GSDs have as their origin a failure of one of these enzymes. As a result, glycogen can no longer be converted into energy, so it accumulates in cells.

GSDs are classified according to the activity of the deficient enzyme and have been numbered in chronological order.
The clinical symptoms of GSD are different, depending on the enzyme that is defective and the type and location of glycogen accumulation.
In Norwegian-born cats, type IV glycogenosis (GSDIV) is caused by a deficiency of α-1,4-glucan 6-glucosyl transferase.
This disease affect 4% of Norwegian cat.
GSDIV is also known in horses and humans (Andersen’s disease).
GSDIV in Norwegian cats is due to abnormal glycogen accumulation in myocytes, hepatocytes or neurons.
This accumulation causes lethal tissue damage.

Symptoms

Kittens with GSIV usually die of hypoglycemia very soon after birth. Surviving kittens die before the age of five months of progressive muscle degeneration.

GSD IV genetic test

The DNA test for the detection of GSD IV can be performed from the age of 2 months. Like all genetic tests, this test is very reliable.
The test is carried out using a buccal swab, which is quick 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

Screening and interpretation of results

The GSDIV of the Norwegian cat is due to a complex rearrangement within the GBE1 gene. This rearrangement consists of a 334 bp insertion and a 6.2 kb deletion that extends from intron 11 to intron 12.
This mutation is hereditary according to an autosomal recessive mode with complete penetrance.

Available breed for the test : GSD IV - Glycogen Storage Disease type IV


The following breed is recognized :
  • Norvegien

Understanding results of the test : GSD IV - Glycogen Storage Disease type IV


N/N : Normal, no copy of the GSD IV mutation. N/GSD IV : one copy of the GSD IV mutation, the cat may develop this disease. GSD IV/GSD IV : 2 copies of the GSD IV mutation, the cat may develop this disease.
Test name : GSD IV - Glycogen Storage Disease type IV
Gene Mutation : GBE1 g. IVS11+1552_IVS12-1339 del6.2 kb ins334 bp
Heredity : autosomal recessive (more information)
Penetrance : complete (more information)
Test resultGSD IV - Glycogen Storage Disease type IV status (GBE1 g. IVS11+1552_IVS12-1339 del6.2 kb ins334 bp)Health status
N/NNo copy of the GSD IV mutationAnimal is normal (clear)
N/GSD IV1 copy of the GSD IV mutationAnimal is normal (clear)
GSD IV/GSD IV2 copies of the GSD IV mutationAnimal is, will or could be affected

Cross table of the test : GSD IV - Glycogen Storage Disease type IV


Mother N/NMother N/GSD IVMother GSD IV/GSD IV
Father N/N100% N/N50% N/N
50% N/GSD IV
100% N/GSD IV
Father N/GSD IV50% N/N
50% N/GSD IV
25% N/N
50% N/GSD IV
25% GSD IV/GSD IV
50% N/GSD IV
50% GSD IV/GSD IV
Father GSD IV/GSD IV100% N/GSD IV50% N/GSD IV
50% GSD IV/GSD IV
100% GSD IV/GSD IV

Certificate example for the test : GSD IV - Glycogen Storage Disease type IV

Click on the example certificate below to open it.

certificate

Komente

There are no reviews yet.

Only logged in customers who have purchased this product may leave a review.