Prenatal diagnosis of uncommon genetic disorders
Since there is a large number of inherited disorders and prenatal diagnosis is not available for all of them, it is important to know precisely the disorder for which the test is being requested. GRC offers prenatal diagnosis for common genetic disorders like thalassaemia, Trisomies 13, 18 and 21 (Downs syndrome), Spinal Muscular Atrophy (SMA), Duchene muscular dystrophy (DMD), cystic fibrosis (limited mutations), fetal Rh-D typing and sex determination for X-linked disorders. For the uncommon genetic disorders that cannot be diagnosed at GRC we offer genetic testing from overseas labs. Once the genetic variant in the affected couples is known we can do prenatal diagnosis by fetal sampling and its genetic analysis in the local setting. You may contact us for any specific queries related to uncommon genetic disorders.
In addition to the fetal sample we require 2 ml blood in EDTA of the father, mother and the previously affected child (if any). The prenatal diagnosis of DMD is done by linkage analysis using short tandem repeat markers within the dystrophin gene. It requires blood sample of the previously affected child. We regret that the test cannot be completed in the absence of the sample of the previously affected child in the family.