Is pre-implantation genetic diagnosis (PGD) available for FSHD?
Yes. An important aspect to know about PGD is that the statistic mapping techniques are used to infer if the actual deletion that causes FSHD itself is inherited. A study is done on the inheritance pattern of map markers on each allele to ascertain whether the disease-carrying allele has been inherited. There are documented cases where the disease allele is inherited but the deletion of D4Z4 is not inherited due to rearrangement (e.g. the D4Z4 region comes from the other chromosome). With FSHD a prenatal diagnosis usually follows the PGD to be sure the deletion was not passed on. -Adapted from Marsha Speevak, Ph.D., Molecular Diagnostic Laboratory, Genetics Department Children’s Hospital of Eastern Ontario, Ontario, Canada FSH Watch, Vol. 5 No. 1, Spring 1998 [amended Fall 2007] * * * * * * * * * Diagnostic Testing Labs and GeneClinics / GeneTests In North America, the University of Iowa, Children’s Hospital of Eastern Ontario, and Athena Diagnostics offer genetic testing. More complex
