GTR Home > Tests > Arrhythmia, familial panel

Overview

Test order codeHelp: 5027

Test name

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Arrhythmia, familial panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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

Genes

Clinical validity

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The clinical sensitivity can be dependent on variable factors such as age or family history. In such cases a general statement should be given. The clinical specificity can be dependent on variable factors such as age or family history. In such cases a general statement should be given, even if quantification can only be made case by case. Although clinical specificity cannot be predicted, it is not 100%. Due to highly variable expressivity, many individuals who do not meet the full diagnostic criteria for Arrhythmias or have mild features of the disease may still carry mutations in Arrhythmia related genes. Family members of affected individuals may carry the same genetic mutation but have mild clinical manifestations such as slightly elevated liver enzymes

Citations

Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • Although an accurate clinical assessment can confirm the diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy and therefore establish the need for appropriate monitoring and management, genetic testing remains useful for genetic counseling and prenatal testing. If a clinically unaffected person undergoes genetic testing and is found to have a disease causing mutation, he/she should be screened for clinical features of the disease and then referred to the appropriate specialists. We recommend that individuals who are at risk (have a significant family history of disease) undergo genetic testing. Prenatal diagnosis can be performed if the index patient has a positive genetic test result. Testing for the known familial mutation can be performed on fetal DNA.

How to order

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

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis

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