Genetic Testing Process

A thorough evaluation for genetic disorders can be a complicated and expensive process due to the numerous rare genetic conditions being considered, the large number of DNA mutations associated with a particular disease, and the existence of many specialized biochemical, enzymatic and genetic tests. It is important that the pediatric cardiologist, geneticist, genetic counselor and any other involved specialist work together to recommend a genetic testing and screening plan that is appropriate for your family.

The process of genetic testing begins with a consultation with a genetic counselor or geneticist, who evaluates the child and family members. The process includes:

  • Evaluating for various genetic conditions, including a detailed family history (pedigree) and a physical exam
  • Recommending specific diagnostic testing
  • Treating and managing any inborn errors of metabolism
  • Coordinating medical care if a syndromic form of cardiomyopathy is identified
  • Assessing disease risk for family members
  • Discussing reproductive options for having healthy children in the future

Interpreting Test Results

Genetic testing usually takes 2 to 8 weeks for results to become available. If a genetic testing finds that your child’s cardiomyopathy is a result of a genetic mutation, it is important to assess the risk of the disease in other family members. The geneticist or genetic counselor can help to translate the test results and answer these related questions:

  • What is the genetic mutation that is causing my child’s cardiomyopathy? Is there more than one mutation that may be causing the disease?
  • What do these findings mean to the parent and siblings?
  • Who in the immediate and extended family should be tested?

While, genetic testing can confirm and exclude an increased risk of disease in family members, it cannot determine whether and when an asymptomatic individual with the genetic mutation will develop the disease. It also cannot predict the severity of the disease.

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