Providing safe, economical and personalized genetic testing for families of patients with recessive genetic disorders

We are testing for most autosomal or X-linked recessive genetic disorders. All copies of a gene must be mutated for a person to be affected with a recessive disorder. Carriers have one mutated gene and one normal gene. Their health is rarely affected. Inheritance pattern of a genetic disorder can be found at Genetics Home Reference website (https://ghr.nlm.nih.gov).

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.

Cost of one test is $200 (all inclusive). If we have funds we will provide testing for free or at a discounted price. Additionally, patient advocacy organizations might financially support genetic testing. Check with your organizations for a participant code. It takes approximately 4-5 weeks from the date we receive your sample for you to receive your results. Click on the links to find positive and negative genetic test results examples.

Your personal and health information will be handled by secure Amazon server (https://aws.amazon.com/). None of your information will be disclosed to anyone, unless you allow DNAcheckup to aggregate de-identified scientific data for publication which will be made available for free to the general public. Genetic testing is performed by GeneByGene clinical laboratory (http://genebygene.com), which is CLIA and CAP certified, with over a decade of genetic testing experience. Each test is physician ordered, either by your personal doctor or by an independent doctor through our online ordering system. If you choose the second option, your order will then be reviewed by a physician belonging to an independent network and if appropriate for testing, your order will be approved.

We suggest that you consult with your personal physician or a genetic counselor to discuss your results, especially If your results indicate that you are a carrier, in order to discuss the risks of passing mutation(s) to your children. Additionally, you can request a personal/family genetic counseling session via telephone or video at a discounted rate from PWNHealth Network, which can be scheduled via email at gc@pwnhealth.com or by telephone at (888) 362-4321.