What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
Ehlers-Danlos Syndrome Type VIIC
What Your Test Results Mean:
Carriers typically show no symptoms of EDS-VIIC; however, carriers are at an increased risk of having a child with EDS-VIIC. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.
Disease Explained:
EDS-VIIC is an inherited condition that impairs the body’s ability to properly make collagen, an important component of connective tissue. The result is called dermatosparaxis: affected individuals have soft, velvety, fragile skin that stretches and tears easily, and severe joint hyperextensibility. People with EDS-VIIC bruise and scar very easily, and their fragile connective tissue can lead to health complications such as spontaneous rupture of the bladder or diaphragm. EDS-VIIC does not affect intelligence or mental function and management is supportive.
How the Genetics Works:
EDS-VIIC is an autosomal recessive disorder caused by pathogenic variants in the ADAMTS2 gene. In general, individuals have two copies of the ADAMTS2 gene. Carriers of EDS-VIIC have a single variant in one copy of the ADAMTS2 gene while individuals with EDS-VIIC have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.