A monogenic disorder is caused by a single gene mutation. There are over 4000 human diseases caused by single gene defects. Monogenic disorders can be inherited from generation to generation.
PGD for monogenic diseases is particularly challenging because the accurate diagnosis on a single blastomere may be affected by variables that are difficult to control.
At present PGD for single gene defects and rare genetic disorders can be offered at Unistel in close co-operation with colleagues in the UK and Europe. The procedure is labour intensive and it can take up to 12 months to “build” the specific test, if PCR is being used.
An alternative method is karyomapping. This requires a work-up of approximately one month. Karyomapping examines the chromosomes of the mother, father and the reference at 300 000 different DNA points looking for characteristic features of the defective chromosome. It is then possible to test the embryos for the presence or absence of the defective chromosome.
Please do not hesitate to contact the PGD Laboratory with any questions at +27 21 938 9213.