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Dog DNA testing illustration

Dilated Cardiomyopathy (DCM, RBM20-related) – Schnauzer

Code: H459

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Dilated Cardiomyopathy (DCM) is a disorder characterised by enlargement of the heart (especially of the left ventricle), poor myocardial contractility, and congestive heart failure.

General information

Dilated Cardiomyopathy (DCM) is a disorder characterised by enlargement of the heart (especially of the left ventricle), poor myocardial contractility, and congestive heart failure. This specific test detects a recessive mutation to the gene RBM20, which has been closely linked to the disorder in the Giant Schnauzer and Standard Schnauzer.

Specifications

Breeds

Schnauzer (Giant), Schnauzer stándard
Gene

RBM20
Chromosome

28
Mutation

c.2472_2493del
Organ

Cardiovascular System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

DCM

Clinical features

DCM is an enlargement of the heart that can result in decreased heart function and abnormal heart rhythm. Clinical signs of heart failure due to DCM include fainting or collapse, weight loss, breathlessness, fluid retention in the abdomen, and sudden death due to cardiac arrest.

Additional information

The mutation in this test should be considered a risk factor. It is associated with the disorder, but does not necessarily guarantee it.

References

Pubmed ID:

Year published: 2014

Omia ID: 2365

Omia variant ID:

Turnaround information

  • 15 working days