57,48 47,50 excl. VAT

K646

Gangliosidosis deficiency is caused by a mutation in the GM2A gene.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Gangliosidosis deficiency is caused by a mutation in the GM2A gene. This leads to progressive accumulation of GM2 ganglioside in neuronal lysosomes and subsequent fatal deterioration of central nervous system function. Also known as GM2 gangliosidosis type AB.

Clinical features

Central nervous symptoms such as locomotory incoordination and exaggerated startle response to sharp sounds. Symptoms generally starting to appear at approximately 14 months of age.

Additional information

References

Pubmed ID: 16200419

Omia ID: 1427

How does it work?

Learn more

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.