Preimplantation genetic testing for monogenic disorders (PGT-M) is a genetic test performed on embryo biopsies, speci cally designed to screen for monogenic (or single-gene) disorders. These are genetic conditions caused by one or more genetic changes in a gene. Tay-Sachs disease, sickle cell disease, cystic brosis, Duchenne muscular dystrophy and fragile-X syndrome are
all examples of monogenic disorders.
WHO MAY BENEFIT FROM PGT-M TESTING?
Any couple at risk to pass down a monogenic disorder may benefit from this testing. This includes individuals with a personal diagnosis or who have a child who is diagnosed with
a genetic condition, and couples who are identified as at risk for a genetic condition through routine carrier screening.
How is this information helpful?
Identifying embryos that are positive for the tested condition may help you and your doctor decide which embryos should be prioritized for transfer.
How does the testing work?
Prior to testing, we review your genetic reports, taking into consideration your personal and family history in order to determine a testing plan speci c to the condition you wish to test. We request saliva samples from each member of the couple to identify speci c genetic markers that are used to track the familial disease causing the genetic variants being tested. In some cases, DNA samples from additional family members may be needed. We create a testing plan that is uniquely designed to address your needs. No two tests are exactly alike.
Once we have a testing plan, embryo biopsy samples can be sent to our laboratory to evaluate each sample for the genetic condition being tested. Once testing is completed, a genetic report is generated by our laboratory and sent to your physician.
Is PGT-M accurate?
Yes, diagnostic accuracy ranges from greater than 97-99%.
There is more than one monogenic disorder in my family. Is it possible to test for multiple conditions?
As long as we can design a testing plan for each individual monogenic disorder that you wish to be tested, there is no limit to the number of conditions that can be evaluated on a single sample.
Can I do PGT-A testing along with the specific genetic disorder I am interested in testing? Yes, PGT-A (aneuploidy screening, also known as PGS) is included with PGT-M, at no additional charge.
What other kinds of PGT studies are offered through Genomic Prediction Clinical Laboratory (GPCL)?
We are the only laboratory that currently offers PGT for polygenic disorders, LifeViewTM (PGT-P)– which tests for conditions in uenced by genetic variants in more than one gene. For individuals with a history of a chromosome rearrangement, PGT-SR (structural rearrangement screening,
also known as chromosomal PGD) is available.
Questions continued on next page
I have questions about testing. Who can I talk to?
Genetic counseling is an important component of PGT studies. We provide free pre-test genetic counseling to help address your questions and guide you through this process.
Genomic Prediction Clinical Laboratory
GPCL’s advances in genetic testing provide couples undergoing IVF a cost-effective means to “look into the future” of their unborn child’s health. We can accurately predict his or her risk for many genetic conditions — due to chromosomal abnormality; monogenic disorders; and polygenic diseases such as
Type 1 and Type 2 Diabetes, Breast Cancer and Coronary Artery Disease.
gpclaboratory.com Contact us at 844-GPCLABS (844-472-5227)