Background
Myotubular myopathy is a disease characterized by early onset and the presence of uniformly small muscle fibers with centrally placed nuclei resembling fetal myotubes.
Onset of clinical signs is typically at or near birth, and affected males have profound hypotonia and weakness accompanied by respiratory difficulties.
Test specific information
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Age
The disease may show itself on different ages, in which it cannot be estimated when the first symptoms may show themselves. Differences may exist between littermates, and between breeds.
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 leads to a loss of brain function.
Breed dependence
This DNA test is available for the following breeds: Labrador Retriever.
Sample type
For this DNA test we accept the following materials: Swab, Semen, Tissue, Blood Heparin, Blood EDTA. 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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