How does genetic testing work?

If you choose to get genetic testing, you’ll meet with a doctor or a genetic counselor (a health care provider who specializes in genes and how they affect our health). After you discuss the possible pros and cons of genetic testing with your doctor or genetic counselor, they’ll order the tests you need. Here’s how the genetic testing process works:

Step 1: Your doctor or genetic counselor will ask you to provide a DNA sample. This could be a sample of your blood or saliva. To give a blood sample, you’ll take a blood test at a doctor’s office or testing location. If you’re giving a saliva sample, you’ll need to spit in a tube or swab the inside of your cheek. Your doctor or counselor may give you a test kit to collect your saliva sample at home, or you may need to go to a doctor’s office or testing location.

Your DNA is the genetic code that tells your cells how to function. Think of DNA like a set of instructions. If some of the “words” in the instructions are spelled differently, it may cause health conditions like ALS.

Step 2: Your doctor or counselor will send your sample to a lab. The genetic testing lab will “read” your DNA and look for pathogenic variants (differences in specific genes that may cause people to develop ALS). This step usually takes about 4 to 6 weeks.

Step 3: Your doctor or counselor will explain your testing results. They may also tell you about treatment options or offer guidance to help you and your family plan for the future. You can ask your doctor or counselor for a copy of your testing results. It’s a good idea to save your results in a safe place, so you or your loved ones can look back at them later.