Dilated Cardiomyopathy (DCM, RBM20-related) – Schnauzer
Kodas: H459
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 | |
|---|---|
| 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
- 10 working days