Preimplantation Genetic Diagnosis (PGD) is a test that is specifically designed to screen embryos for a known mutation that is causing a familial genetic condition, such as Cystic Fibrosis or Tay Sachs. Used in conjunction with in vitro fertilisation (IVF), PGD is a laboratory test that is used to help detect single gene conditions before embryos are transferred to a patient’s uterus.

Reduce the risk of passing on heritable genetic disorders

Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) is a test that is specifically designed to screen embryos for a known mutation that is causing a familial genetic condition. Used in conjunction with IVF, PGD detects single gene conditions before embryos are transferred to a patient’s uterus.

PGD is able to detect mutations of any size, from very large mutations to those that are very small. Thus, because PGD is a specialised test that is designed to test a specific mutation that is unique to each family, it is a diagnostic test. Genesis Genetics is able to offer PGD for over 400 (just about any) genetic diseases.

A leading global provider and pioneer of PGD

Genesis Genetics is a leading global provider of PGD, providing expert laboratory services to many of the most respected IVF centres in the world. Dr Mark Hughes, the founder and CEO of Genesis Genetics, was part of the first team to perform this testing over twenty years ago.

PGD using advanced molecular technologies

Using advanced sequencing and karyomapping technologies, Genesis Genetics is able to rapidly design a PGD test for just about any genetic condition.

With the help of PGD, families affected by essentially any inherited condition can help reduce the risk of it occurring in their future children. Even families in search of a bone marrow donor can use PGD with HLA matching to bring a child into the world who is free of the condition and who can provide the necessary stem cells to help treat an affected older sibling.
In order to screen an embryo, a biopsy is performed by an embryologist at your IVF centre. The biopsy removes cells from the embryo, which are then sent to Genesis Genetics, where they are screened for the genetic condition of concern.
Yes, scientific studies have shown that embryo biopsies do not add risk factors to the health of babies born after IVF.2
No test can guarantee that a baby will not have any medical issues. PGD does not test for all genetic and non-genetic problems that may be present in a baby. Genetic counselling before and after testing is recommended.