Background
Niemann?Pick C disease is a group of inherited severe metabolic disorders that allows a certain kind of fat to accumulate in cells. The fat, sphingomyelin, accumulates in lysosomes (membrane-bound organelles in cells). The lysosomes are cell compartiments, responsible for the digestion of biomolecules.
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.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
Metabolic diseases comprise a group of diseases in which the metabolism of nutrients in the body cells of a patient is affected. Typically, the metabolism is not working correctly due to missing (deficiency) of an enzyme or protein. The function of the enzyme in the metabolic process influences the gravity of the symptoms.
Breed dependence
For this test samples from all breeds are accepted.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Hair, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
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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