Genetic Testing

Genetic testing is often overlooked but an important component of your child’s care. It can help to confirm your child’s diagnosis and identify the genetic cause of your child's disease. In certain cases where cardiomyopathy appears to be caused by another underlying disease, genetic testing may have an impact on your child’s treatment and prognosis.

Genetic Testing Defined

According to the National Center for Biotechnology Information, a genetic test “is the analysis of DNA (deoxyribonucleic acid), RNA (ribonucleic acid), chromosomes, proteins or metabolites” in order to detect abnormalities related to an inheritable disorder.” Genetic testing is a way to diagnose cardiomyopathy and identify the underlying cause for the disease.

Genetic testing involves examining a person’s DNA or RNA, which carries the encoded genetic information responsible for the organization and functioning of all cells in the body. DNA can be obtained through samples of body fluids or tissues such as a check swab or blood. There are different types of genetic tests, which a geneticist or genetic counselor can explain in more detail.

  • Direct DNA or RNA testing
  • Linkage DNA testing
  • Molecular cytogenetics
  • Biochemical testing

Purpose of Genetic Testing

Genetic testing is used for different purposes. One purpose is to aid in diagnosis and to identify genetic mutations that may have caused your child's disease. Another purpose is to screen other family members to determine if they are at risk for developing the disease. Since cardiomyopathy can be familial and symptoms may not be obvious, genetic testing can be used to assess the risk of other family members.

Genetic testing can help to answer several questions:

  • What is the genetic mutation that is causing my child’s cardiomyopathy?
  • Does my child have secondary cardiomyopathy that is associated with another genetic disorder?
  • Based on the findings, does my child’s treatment plan need to be modified and do other specialists need to be involved in my child’s care?
  • Do other members of the family have the same genetic mutation as my child and who is at higher risk for developing symptoms?
  • Which family members should be monitored more closely and rescreened if test results are negative?
  • What is the likelihood that my future children will have the disease?

Genetic testing can be particularly useful in determining if a child has a metabolic disease, verifying if the cardiomyopathy is viral in nature and assessing the risk of other family members with a familial cardiomyopathy. With certain metabolic disorders, a change in diet, specific drug therapy (carnitine) or a bone marrow transplant can help to resolve the cardiomyopathy. If the cardiomyopathy is found to be viral, screening of other family members can be eliminated. In cases where the cardiomyopathy is familial, genetic screening can identify which family members need to be more frequently monitored and which members no longer need to be followed.

Genetic Testing Process

Genetic testing can be performed in a clinical setting or a research study setting. Clinical genetic tests are done in commercial laboratories that comply with the Clinical Laboratory Improvement Amendment (CLIA) regulations. It is fee based and patients receive results that can be used to make medical care or family screening decisions. With research testing, it is usually done at a major medical center at no cost and results are not always shared with patients. For additional information on the actual process, refer to the Genetic Testing Process page.

Factors to Consider Before Genetic Testing

There are many factors to consider before deciding on genetic testing. Factors include whether the results will impact health and life insurance coverage and whether the information can alter treatment or predict the disease progression in the tested individual or screened family members. Additional factors for consideration and information about genetic discrimination are available on the Considerations in Genetic Testing page.

Family Screening

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