For Providers

How can PGD for single gene disorders help my patients?

Preimplantation Genetic Diagnosis (PGD) for single gene disorders is the diagnosis of a genetic condition prior to achievement of a pregnancy. First developed in the early 1990's by RGI scientists, PGD is performed in conjunction with an In Vitro Fertilization (IVF) cycle. As the pioneers of PGD, we have performed PGD for over 400 conditions, including de novo (new) and mosaic conditions.

RGI creates a personalized testing system (a PGD Setup) for each family. We use a system of linked markers in combination with direct mutation analysis by Polymerase Chain Reaction (PCR) to achieve the optimal accuracy of 98%. Linkage analysis requires DNA samples from family members in order to establish a pattern of markers associated with the condition. This setup is used to provide a diagnosis for each embryo.

From the receipt of all necessary DNA samples and documents, a setup can be completed within 4-8 weeks. We recommend that patients complete their PGD setup prior to the start of their IVF cycle. Once created, a PGD setup is valid for all future IVF/PGD cycles.

RGI can use linkage analysis for families requesting HLA matching. PGD for single gene disorders and/or HLA matching can be combined with 24-chromosome PGS.