Genetic Testing

Genetics and HCM

HCM is usually caused by changes in the genes that cause the heart muscle to thicken. HCM can be inherited, meaning it runs in families. Genetic testing can be helpful in diagnosing HCM in cases where there is uncertainty. It can also help identify family members who may be at risk for developing HCM. Genetic testing can be done from a blood sample or from a saliva sample.  

How Genetic Testing Works

We begin with an educational session, explaining what the testing will reveal and how family members will benefit from this knowledge.

A blood or saliva sample is sent to the lab, where DNA, or genetic material, is isolated. The genes most commonly responsible for HCM are read like words on a page. We are looking for a typo or misspelling that causes a mistake in the protein made by that gene.

Genetic testing is either covered in full by most insurance policies or the patient has a maximum out-of-pocket cost.

Genetic Testing and Family Planning

Genetic testing can help in family planning. If only one parent tests positive for a HCM gene, the mutation can be passed on to the next generation.

Some couples opt for prenatal genetic testing for HCM while others opt for in vitro fertilization with genetic testing for HCM before the embryo is implanted in the womb.