Pre-implantation Genetic Diagnosis of Monogenic 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.
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.
Borough Wing - 7th Floor
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
E: firstname.lastname@example.org; email@example.com
Last updated: 18/10/2019