The gangliosidoses are inherited diseases of a category known as lysosomal storage diseases. Affected kittens have head tremors at the beginning followed by impaired co-ordination of leg movements which eventually lead to paralysis. Although various types of gangliosidosis cause fatal progressive brain disease, they are caused by entirely different genetic errors of lysosomal enzymes. GM2 gangliosidosis is caused by a lack of the enzyme beta-hexosaminidase.
Test specific information
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
The Turnaround Time (TAT) depends on various factors, such as the shipment time of your sample to the test location, the test method(s) and whether the tests are performed completely or partially by a Partner Lab or Patent owner.
The TAT of tests performed at our facilities is normally 10 working days after receipt of the sample at the testing laboratory (VHL, VHP or Certagen). For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 20 working days after receipt of your sample. Because the shipment time to our Partner Labs or patent owner may vary due to factors we cannot influence, the mentioned 20 working days are therefore an estimate.
Sometimes it is necessary to re-run your sample. We call this a retest. In that case, the TAT will of course be extended.
Location of disease or trait
This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.
This DNA test is available for the following breeds: Domestic Short Hair, Housecat Shorthair. Additional information is available in the Frequently Asked Questions (FAQ).
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Swab. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.
This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).
Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.
Severity of Disease