Identification of carrier status in a family with a recessive disorder history is important for educating family members of their risks of passing on genetic diseases to future generations. Families known to be at risk for recessives diseases can consider options such as preimplantation genetic diagnosis (PGD) or prenatal diagnosis. When testing for specific mutations that are present in a family, the testing should start from the affected individual (usually the bottom of the family tree) and the siblings, and go up the family tree (parents) and to the sides (uncles/aunts), then up again, and so on. You can find more information about our genetic testing in this video.
Dante Labs has reduced their prices for whole genome DNA testing (WGS) for patients with nephropathic cystinosis to $299 (regularly $599). The report provided by Dante Labs allows family members to test for the same genetic mutation (carrier testing) through DNAcheckup for $150 per family member. As a carrier you might pass the mutation to your children (50% chance). Children of carrier parents (when both parents are carriers) have a 25% chance of inheriting two mutated genes and developing the disease.
It is important to be informed to make timely decisions. A nonprofit 501(c)(3) organization, DNAcheckup provides safe, low-cost, doctor-prescribed genetic testing for families affected by recessive genetic disorders. Further information is available at https://www.dnacheckup.org.
