Frequently Asked Questions
- What health conditions are associated with pathogenic variants?
- How much will the genetic testing cost for my relatives?
- Is there an age range for genetic testing?
- Can my relative find out if they have a pathogenic variant from a direct-to-consumer test? What if they already did 23andMe?
- Where can I find a copy of my report from my genetic testing?
What health conditions are associated with pathogenic variants?
In general, genetic tests are looking for pathogenic variants in your genes. Increasingly, conditions are being associated with pathogenic variants in specific genes. Oftentimes, your healthcare provider will order specific tests for specific genes because your family history indicates possible inherited risk within those genes. So, if your genetic test finds a pathogenic variant in a gene associated with a health condition, you are considered to have inherited risk. Many of the syndromes below are herditary, and associated with specific types of cancers or other health conditions.
Below, you will find resources about heritable conditions and their associated genes.
- Risk of King Syndrome, or Hereditary Breast and Ovarian Cancers, is often tested by looking at the BRCA1, BRCA2, and PALB2 genes.
- Risk of Lynch Syndrome, which is associated with colorectal cancers, stomach cancers, and endometrial cancers, is often tested by looking at the MLH1, MSH2, MSH6, and PMS2 genes.
- Risk of familial adenomatous polyposis (FAP), which is associated with cancers of the colon and rectum, is often tested by looking at the APC, SMAD4, and BMPR1A genes.
- Risk of Li-Fraumeni Syndrome, which is associated with several types of cancer, is often tested by looking at the TP53 gene.
- Risk of Cowden syndrome is tested by looking at the PTEN gene.
- Risk of Familial Hypercholesterolemia, or hereditary high cholesterol, is often tested by looking at the LDLR gene.
How much will the genetic testing cost for my relatives?
The cost of genetic testing varies depending on the genetic testing company. Known mutation testing is usually not as expensive as other types of genetic testing, like genetic testing panels, and it is generally covered by insurance. Some genetic testing companies offer known mutation testing for relatives at a reduced price.
Is there an age range for genetic testing?
There is no age limit for genetic testing. However, the American College of Medical Genetics and Genomics (ACMG) and American Academy of Pediatrics (AAP) recommend that genetic testing for late-onset conditions (like cancer) in children should be deferred until adulthood. Your relatives should talk to a genetic counselor to help them decide if they want to get tested.
Can my relative find out if they have a pathogenic variant from a direct-to-consumer test? What if they already did 23andMe?
Your relative should find a genetic counselor to get genetic testing. Direct to consumer genetic tests like 23andMe do not offer the same types of genetic tests or information as a clinical genetic test ordered through a health care provider.
Where can I find a copy of my report from my genetic testing?
If possible, contact your health care provider (genetic counselor or doctor) who helped you order the test. He/she may be able to send you a copy of the report or put you in contact with the lab that did your testing.