Discover why testing is important for you
Knowing your carrier status can help prevent a devastating disease...
What does it mean to be a carrier?
Everyone’s genes come in pairs. A carrier of a genetic disease is a person who has one gene that does not work correctly, but the other works just fine. The working gene keeps the carrier healthy. A person wouldn’t know that they carry a particular disease gene unless they got tested or had an affected child.
The JScreen testing panel includes diseases that are inherited in an autosomal recessive pattern and others that are inherited in an X-linked pattern.
Autosomal Recessive Disorders
… and create peace of mind
What happens if you test positive?
Preimplantation genetic diagnosis (PGD)
Preimplantation genetic diagnosis or PGD is a safe procedure that involves in vitro fertilization and testing on embryos at risk for a particular genetic disease. This is usually performed in a fertility clinic by a specialist. PGD has been used for over 20 years to help thousands of couples have healthy children.
Use of donor sperm or egg
Donated genetic material (sperm or egg) from a non-carrier individual can be used in combination with either an egg or sperm from a couple to prevent a genetic condition.
A carrier couple can choose to become parents through adoption.
Prenatal diagnosis involves testing a pregnancy to determine whether a genetic condition is present. This can be done as early as 10 weeks to approximately 18 weeks into the pregnancy, and is very accurate if carrier screening has already identified that the parents are at risk.
Preparation and Early Treatment
Knowing that your children are at risk for a condition allows you to prepare for that possibility. This preparation can range from moving to be closer to family to learning about the disease. You can also have your children tested for the condition early so that any needed treatments can be started right away.
For couples facing these choices, JScreen can refer you to a local genetic counselor or specialist who can give you more information about each of these options. Contact [email protected] if you are interested in a referral.