Genealogists who have put together their medical family tree might be knowledgeable about the genetically heritable diseases that run in their family. That knowledge can be helpful when people are ready to start a family. GoodStart Genetics provides genetic testing that can help parents have healthy babies.
There are many diseases that are heritable. Sometimes, these diseases require both parents to not only be a carrier of a specific gene mutation, but also to have both pass that mutated gene onto their child. Other times, all it takes if for one parent to pass on one mutated version of a gene that causes or increases the risk of developing a disease.
One thing people can do before they try and start a family is have genetic testing done. This can help them figure out if either partner is carrying a gene mutation that could be passed onto their child. Or, the genetic testing could help discover that a person doesn’t have the mutated gene that runs in his or her family.
This is where GoodStart Genetics can help. They offer two services that provide insight into a person’s reproductive health. One service is called GeneVu and the other is called EmbryVu. There are differences between each of these services.
GeneVu is a type of carrier screening. It provides useful information about a person’s risk of passing on a genetic condition to their child. People can get the GeneVu carrier screening in their doctor’s office.
First, the people who want to have a baby, and their doctor, sit down and figure out what genetic disorders to test for. Each parent provides a blood sample. That sample is sent to a lab. Results are returned to the parents in about 10 to 14 days. The parents can then discuss the results with their doctor, or a genetic counselor, and make a plan.
The GeneVu pan-ethnic test can test for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. The GeneVu ethnicity-specific tests looks for hemoglobinopathies (which are blood disorders that are seen in various populations. It can test for alpha-thalassemia, beta-thalassemia, and sickle cell disease.
Another set of GeneVu tests is for people with Ashkenazi Jewish heritage. It tests for Bloom’s syndrome, Canavan disease, Usher syndrome type III, Usher syndrome type IF, Tay-Sachs disease, and more.
EmbryVu is a preimplantation genetic screening that can help parents find the path to pregnancy. The parent’s fertility team removes a few cells from each of their embryos and sends them to be tested by GoodStart. They analyze all 23 chromosomes to identify “normal implantation-ready embryos”. The fertility team makes a plan that will increase the parent’s chances of pregnancy success.
Image by Esparta Palma on Flickr.
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