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Genetic Testing
  Where is Your Genetic Testing Done?
By Amanda Ewart Toland, PhD

Reviewed by Miriam Komaromy, MD



You and your doctor or genetic counselor have decided that genetic testing is right for you. One of the next questions you may ask is "Where is the actual test going to be performed?"
 
 
 

Genetic Testing Isn't Like Getting A Cholesterol Test

Since this is not a routine type of test that doctors order, it is likely that your doctor's office does not have an in-house laboratory or an affiliated laboratory that can do genetic testing. Because of this, your doctor may not know which laboratories offer a test that is right for you and your family.

No laboratory offers tests for all genetic disorders.
To add to the complexity, there are hundreds of different genetic disorders. Some are common, some are rare, and to complicate matters further some involve several different genes — so no laboratory offers tests for all genetic disorders. Even for a single disorder, for example hereditary nonpolyposis colorectal cancer (HNPCC), there are multiple laboratories that offer testing, but commercial laboratories may only look for mutations in the two most common of the six genes that can cause this disorder. This means that they will detect more than 90 percent of HNPCC cases, but not every single case.

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Finding A Testing Facility

Your doctor or genetic counselor should be able to recommend testing facilities for your disorder. Once you have a list of all the laboratories, there are still a number of things that must be considered when choosing where to send your sample for testing. For example:

 

  • What is the cost of the test?
  • Is this a commercial or research laboratory?
  • Does the laboratory test for the type of mutation your family is likely to have?
  • Does the laboratory accept insurance payments for genetic testing?

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Commerical Versus Research Laboratories: Which Is Right for Me?

There are many differences between commercial and research laboratories. To help you and your doctor decide which type might be better for you, it helps to know a little bit about the differences between them.

 

Commercial Laboratories

Commercial laboratories are clinically approved for genetic tests and generally undergo a series of tests to measure the quality of their testing procedures. Because they offer genetic tests on a fee-for-test basis, these labs have a shorter turn-around time than research laboratories and often will accept insurance as payment for the test. One of the negatives of many commercial laboratories is that they only offer testing for the most common mutations or genes involved in a genetic disorder. If your family has a very rare genetic disorder or has a more common disorder with a rare cause, the test that is right for your family may not be available commercially.

 

Research Laboratories

Commercial Research
Fee-for-service Often free
Faster results Slow results
Take insurance payments Don't take insurance payments for some tests
Test for common mutations Test for common rare mutations
Services are standardized Services done with unknown quality control
Simple process May require additional information for research purposes

On the other hand, research laboratories usually offer genetic testing for free. They will frequently offer testing for rare or unusual genetic disorders that they are interested in understanding more completely. They may need additional information from you or your family for their research studies. Because these laboratories are offering the tests as part of a research program, the results may not be available for months or even years. In some instances, the laboratory may not even contact your doctor if they do not find a mutation in the gene they are testing. Many research laboratories are not clinically approved for genetic testing, which means no one is checking up on their testing process. If you have a very rare disorder or do not have the money or insurance to pay for genetic testing at a commercial laboratory, testing through a research laboratory may be right for you.

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