PGT-M – Preimplantation Genetic Diagnosis

A genetic test designed to reduce the risk of having a child with an inherited condition

For people who know they are at increased risk of passing on a specific genetic condition, PGT-M, or preimplantation genetic testing for monogenic/single gene defects, can be performed prior to pregnancy to greatly reduce the risk of having an affected child.

PGT-M involves testing embryos created through in vitro fertilization (IVF) and then transferring unaffected embryos.

PGT-M was formerly known as PGD, preimplantation genetic diagnosis.

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Who is it for?

PGT-M is appropriate for people who are at high-risk of passing on a specific single gene disorder. You may consider PGT-M if:

  • You and your partner are carriers of the same autosomal recessive condition (e.g. Cystic fibrosis)
  • You are a carrier of an X-linked condition (e.g. Duchenne Muscular Dystrophy)
  • You or your partner have an autosomal dominant condition (e.g. Huntington disease)
  • You or your partner have a mutation associated with a hereditary cancer syndrome (e.g. BRCA1 & 2)
  • You had a child or pregnancy with a single gene disorder
  • You want to perform HLA matching

How It Works

PGT-M tests are created uniquely for each family. PGT-M can be performed for nearly any single gene disorder as long as the specific familial mutation has been identified and appropriate family members are available for test preparation.


PGT-M can be performed for >99% of inherited single gene disorders


PGT-M identifies affected and unaffected embryos with >98% accuracy¹

The PGT-M Process


1. Case Review

Prospective parents speak with a genetic counselor and discuss if additional genetic testing of the couple or other family members is required.


2. PGT-M Test Preparation

The PGT-M lab designs a test unique to each family.


3. IVF

In vitro fertilization is performed and the resulting embryos are incubated.


4. Embryo Biopsy

An embryologist carefully removes a small cell sample from each embryo.


5. PGT-M

Samples are sent to the PGT-M laboratory, testing is performed, and results are released to the IVF center.


6. Embryo Transfer

An unaffected embryo is transferred. Remaining embryos can be frozen for future use.

PGT-M Technology

PGT-M testing involves a close examination of both the mutation an individual carries and the area of the chromosome surrounding it, shown above as the colored segment of each chromosome. Each PGT-M test design is unique and specific to the family, so DNA samples from both partners, and often additional family members, will be requested in order to design a test. Then, linkage analysis is used to determine the “genetic fingerprint” of the mutation and diagnose each tested embryo as affected or unaffected.


PGT-M/SR Experience

CooperGenomics is the pioneer and worldwide leader of PGT-M/SR. Our team performed the first-ever PGT-M procedure, and has since performed more PGT-M/SR cases than all other labs combined. This level of experience allows us to confidently accept even the most complex cases, which are often turned down by other labs.