/ Farber Disease

Genetic Testing Q&A

What is genetic testing?

According to the NIH¹, genetic testing is “a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.” ¹

Why might someone want to consider getting genetic testing?

There are several reasons someone might want to consider getting genetic testing:

  • You may be experiencing symptoms of a genetic disease, and a genetic test can confirm or rule out a diagnosis.
  • Confirming a diagnosis via a genetic test can help you get access to the proper treatment if it is available.
  • You may be predisposed to a genetic condition based on family history and want to know if you have the condition.
  • You and your partner are considering having children and want to know if there’s a chance you could pass on any genetic diseases to your children.

Direct-to-consumer genetic testing vs genetic testing ordered by doctor

There are many direct-to-consumer (DTC) genetic tests currently available. These tests can be a great resource for those who want to learn more about their health, specific traits, and ancestry. However, it is important to understand that these tests are not regulated by any health authorities to ensure accuracy and don’t always produce comprehensive reports.

If you need a diagnosis, genetic testing through a medical professional is generally the preferred method. DTC tests don’t always screen for the specific diseases your physician may want you to be tested for. Additionally, conducting a DTC test without a medical professional’s supervision could potentially leave you without guidance for next steps and proper treatment.

Steps to take if you are interested in genetic testing

  1. Do your research to ensure you fully understand the benefits and risks of getting a genetic test.
  2. Talk to your doctor about ordering a test. (If you are unable to get an appointment with a doctor, consult a genetic counselor or other qualified medical professional.)
  3. Before completing the test, ensure that you have gone through an informed consent process where you are given a full overview of the test, understand how it will be conducted, know the risks associated, and are aware if and how the test will be used for research.

Example: If you think your child has been misdiagnosed and actually might have a rare disease

Imagine that your child has developed bumps on his or her knuckles (not bone growths), and over time, your child also develops joint pain and/or contractures. The doctor diagnoses your child with a form of arthritis. Although treatment initially helps with the pain and swelling, your child’s disease continues to get worse. You think that your child may have been misdiagnosed and may actually have Farber disease (a rare, genetic, metabolic disease with three hallmark symptoms typically appearing in childhood: joint pain or contractures, bumps under the skin, and an increasingly hoarse or weak voice).

Given the variability in clinical presentation, people living with Farber disease are often misdiagnosed by their physicians. There is a free genetic tIf est that can help to diagnose someone with Farber disease, and by filling out this form, you can connect with a member of Team Clara to learn more. You can also talk with your child’s doctor to find out whether getting your child tested for Farber disease is right for you and your family.


Nothing stated in this guide is intended to be a substitute for professional medical advice, diagnosis,or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. This is a sponsored post made possible by our collaboration with Enzyvant.

¹ https://ghr.nlm.nih.gov/primer/testing/genetictesting