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How can PGT-M for single gene disorders help my patients?

Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M) 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, PGT-M is performed in conjunction with an In Vitro Fertilization (IVF) cycle. As the pioneers of PGT-M, we have performed PGT-M for over 500 conditions, including de novo (new) and mosaic conditions.

RGI creates a personalized testing system (a PGT-M 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 PGT-M setup prior to the start of their IVF cycle. Once created, a PGT-M setup is valid for all future IVF/PGT-M cycles.

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

Physician Checklist: Currently under review