GTR Home > Tests > Cardiomyopathy, dilated type 1V

Overview

Test order codeHelp: 234

Test name

Help

Cardiomyopathy, dilated type 1V

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis

Condition

Help

1 condition tested. Click Indication tab for more information.

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
PCR with allele specific hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

Help

"Until now, 51 Dilated cardiomyopathy (DCM) genes have been reported. The most frequently mutated DCM genes are TTN, LMNA, MYH7 and TNNT2. A recent study of a small cohort of idiopathic DCM patients reported that the frequency of TTN mutations was 25% in familial DCM and 18% in apparently sporadic cases. MYH7 and TNNT2 mutations are identified with a frequency of 4–5% and 3%, respectively. LMNA mutations are also frequently detected in up to 6% of cases and in particular in the subgroup of idiopathic DCM associated with conduction disease (30–33%). In certain populations, specific mutations may be overrepresented due to a common founder mutation, for example, the LMNA p.Ser143Pro in 7% of the Finnish idiopathic DCM population or the PLN p.Arg14del in up to 15% of Dutch idiopathic DCM patients. Several studies have reported that DCM patients carrying more than one disease-associated mutation have an early onset, severe disease expression and a bad prognosis, which is most likely due to a gene-dosage effect. It is expected that next-generation sequencing techniques will identify an increasing number of patients with such complex genotypes. Centogene is offering DCM NGS panel as well as single gene tests for all genes associated with DCM. If a pathogenic mutation is found in the index patient, the risk of being a carrier for a first-degree relative is 50% (assuming autosomal-dominant inheritance of a familial mutation). If a pathogenic mutation is identified in the index patient, and this mutation is absent in another family member, this family member is generally believed not to be at increased risk for developing DCM. However, because carriership of multiple putative disease-causing mutations in more than one gene has been reported, it cannot be excluded that this mutation-negative family member may carry a still unidentified DCM-related mutation. The chance of carrying such an additional DCM-related mutation is believed to be <3%. If a pathogenic mutation is identified in the affected index patient, and the clinical phenotype is in line with what is known about that specific mutation or gene, the genetic situation is resolved. The importance of gene test for DCM is high, as well as the impact of the patient´s health status and life quality."

Citations

Not provided

Clinical utility

Help

Not provided

How to order

Help

Order URL Help: https://www.centogene.com/ordering/how-to-order-a-test.html

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center