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Muscular Dystrofie. Duchenne type (MDM) 2 H359

56,87 €

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Background

This disease is characterized by sarcolemma dysfunction, which results in an increased intracellular calcium level and muscle fiber hypercontraction. Subsequent muscle fiber degeneration and necrosis. Eventually, muscle fibrosis, mineralization and fat infiltration occur in both skeletal and cardiac muscle. Lesions occur in cardiac muscle, usually occur after 6 months of age.

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

This disease affects the formation of bone as well as the skeletal development.

Breed dependence

This DNA test is available for the following breeds: Cavalier King Charles Spaniel.

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Semen, Swab. Please contact PharmaDNA if you wish to submit other material as listed.

Result

The following results are possible for a female: the mode of

Inheritance

is based on recessive or dominant patterns.The following results are possible for a male: - A male animal has the sex chromosome Y and a healthy allel. When used in breeding, this animal will not become affected by the disease, nor will the disease be inherited to the next generation. - A male animal has the sex chromosome Y and a disease allel. When used in breeding, this animal will become affected by the disease. Also, male offspring will receive the Y-chromosome, whereas female offspring will receive the disease allele.

Inheritance

The disease is inherited in an X-chromosomal manner. This means, that female individuals can be free (homozygous normal), affected (homozygous affected) or carrier (heterozygous). Male individuals carry only one copy of the X-chromosome, which results in the effect that male carriers will also be affected. Female carriers may spread the disease in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a disease.

Severity of Disease

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