Enrolling a Patient for Preimplantation Genetic Diagnosis 
IVF-Reproductive Center Patient Referral

Register the Couple
Simply complete our “patients information form” for the couple. This acts as a physician’s order for us to enroll them into the program

DNA Diagnostic Report: 
You probably have a DNA diagnostic report(s) in the patient’s chart. For example, a cystic fibrosis mutation report defining the gene mutation(s). If you do not have one or the mutations are unknown, we can assist you in obtaining it through our genetic facility. We use these data to custom design the molecular probes necessary for their single-cell PGD testing.

Schedule a sample trial: 
PGD for single gene disorders is quite different from analysis for chromosomes, where DNA contamination or PCR inhibition is not a problem. Because of being a DNA based procedure, contamination can cause a misdiagnosis and PCR inhibition can determine a diagnosis failure.
The biopsy/tubing procedure used at your IVF center should be evaluated before sending the first case by scheduling a sample trial (i.e. a mock PGD on spare blastomeres), in order to assure that the number of tubes with no cells is acceptable, a result can be obtained (no PCR inhibition) and contamination is not introduced into the specimens. We will provide feedback and suggestions for improved technique when indicated.

That’s it! This is all you have to do. What does GENOMA do next, once you have referred a case for PGD?


1) Collect and Review Genetic Information.
Our Certified Genetic Counselors take a Genetic History and review the existing DNA Information.

2) Design, Construct and Optimize Probes. 
EACH and EVERY PGD case is customized for each couple. We start immediately after receiving the necessary Blood/cheek swab samples.

3) Notification that the Test is Ready.
We contact you, the IVF Center, once the probes are constructed, optimized and certified for the couple’s PGD case. 

4) Our Laboratory then waits until you tell us you need us to test the biopsied samples.