Dr. van Haeringen Laboratorium B.V.

K309 Gangliosidosis, GM2, type II - 3

Background

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

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Age

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.

Turn Around Time

The turn-around-time of a test depends to a large extent on the logistics of sample transportation to the laboratory. After receiving the sample at the test location, you can normally expect the result within 10 working days. A longer delivery time applies to tests carried out by a Partner Lab.

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.

Breed dependence

This DNA test is available for the following breeds: Domestic Short Hair. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

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.

Result

Inheritance

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

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Code K309

Gangliosidosis, GM2, type II - 3

€ 47,80 (Incl. 21% VAT)
€ 39,50 (Excl. VAT)
Quantity