Harvard Medical School - Partners Healthcare Center for Genetics and Genomics
What is a genetic test?
Having a genetic test is when selected genes in the DNA are analyzed to see if they have mutations (changes) in them. A genetic test is like a "spell-checker" that looks for misspellings/changes in genes. This test may help to find out whether a disease is genetic.
This information may allow better treatment and management of the disease. It can also help predict the chance that future children and family members will inherit the disease. A genetic test may be done using saliva, cheek cells or a blood sample.
However, using blood is more reliable and is the preferred sample for testing.
Did You Know: A genetic test requires only two teaspoons of blood!
To learn more in-depth information about genetic testing
please refer to our test menu and the disease specific information pages on our website.
How much does a genetic test cost?
The cost of a genetic test depends on what test is ordered.
Please refer to the specific test sections of our website for this information.
Genetic testing is usually covered by insurance if there is a medical reason for the test. Unfortunately at this time, our lab does not bill insurance companies. However, patients may
try to obtain pre-approval for a test from an insurance company prior to genetic testing or
seek reimbursement after the testing process has been completed. Some insurance
companies require that a letter of medical necessity be submitted prior to granting
pre-approval or reimbursement. Examples of such letters are available for download at our website.
What are the benefits & limitations of a genetic test?
Benefits of Genetic Testing:
Finding a gene mutation may help to establish a diagnosis, even in at-risk family members who have no signs and symptoms of the disease.
Finding a gene mutation may guide physicians in patient management.
It can identify at-risk family members who did not inherit the mutation, freeing them from unnecessary follow up and worry.
Family members may be able to determine the chance of having future children with the disease.
Limitations of Genetic Testing:
In some cases, genetic testing (in the case of a negative result) does not rule out a genetic cause for the disease.
Genetic testing sometimes may give unclear results.
Genetic testing cannot always predict characteristics of a disease such as age of onset or how severe the signs and symptoms will be.
Who should I talk to about genetic testing?
Your physician may or may not be knowledgeable about genetics. Therefore, it is often recommended that you also talk to a genetics professional.
These professionals may include:
Genetic Counselor - person who holds a master's degree in genetics. He/She
helps patients and families understand genetic diseases. A genetic counselor can
help interpret genetic test results and discuss the chance for a disease in future
family members.
Clinical Geneticist - a medical doctor who has training in genetics. He/She
helps identify genetic diseases and can also help interpret genetic test results and
discuss the chance for a disease in future family members.
Clinical Molecular Geneticist - usually a person with a Ph.D. in genetics.
He/She oversees genetic testing in the laboratory and reports test results to a
counselor or a physician.
