Pre-implantation Genetic Diagnosis of Monogenic Disorders

Testing of pre-implantation embryos for a wide range of monogenic disorders is carried out using a generic haplotyping approach for the specified gene (Preimplantation Genetic Haplotyping; PGH). This approach has been successfully applied to provide PGH to couples for over 200 genetic disorders:

1. Autosomal recessive conditions such as cystic fibrosis, sickle cell anaemia.
2. Autosomal dominant conditions such as myotonic dystrophy, Huntington disease.
3. X-linked conditions such as Fragile X syndrome, Duchenne muscular dystrophy.
4. De Novo mutations arisen for the first time in an individual such as NF1, FAP.
5. If the test is not already in our repertoire then the request will be assessed and a new test developed as appropriate.
Clinical details: 
For a couple undergoing Pre-implantation genetic diagnosis (PGD), IVF protocols are used to obtain and fertilise a number of eggs. The fertilised embryos develop for five to seven days to blastocyst stage when each embryo is biopsied to collect approximately 5-10 cells. The genetic material (DNA) from the cells is tested for the genetic disorder in the family. Unaffected embryos are then transferred to the female, with the aim of establishing an ongoing clinical pregnancy unaffected by the genetic disorder.

The genetics laboratory works closely with the Centre for Pre-implantation Genetic Diagnosis at Guy's and St Thomas' Trust which is the largest and most successful centre in the UK for PGD for chromosome rearrangements and monogenic disorders, with over 700 babies born as a result of this treatment.
Turnaround time: 
On application
Storage and transport: 
Transport PGD is not available, patients should be referred to the Guy’s & St Thomas’ Centre for PGD
On application
Pre-Implantation Genetic Diagnosis at Guy's Hospital
Genetics Department
Borough Wing - 7th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

For Monogenic Disorders contact Dr Pamela Renwick
T: 020 7188 1667
F: 020 7188 7273

For Chromosome Rearrangements contact Dr Angela Davies or Ms Susan Bint
T: 020 7188 1701
F: 020 71881697
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 18/10/2019