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.
Alport Syndrome, X-Linked
What Your Test Results Mean:
Female carriers typically show no symptoms of X-linked Alport syndrome; however, some female carriers may have blood present in their urine which is typically only detectable with laboratory testing. Additionally, some female carriers may also have varying levels of hearing loss that occurs later in life. Around 40% of female carriers will experience kidney failure in late adulthood, around 80 years old. Female carriers are at an increased risk to have a child with X-linked Alport syndrome. Risk for the current or future pregnancies depends on the sex of the baby.
We recommend that you share and discuss this information with all of your health care providers. Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning and their own personal clinical management.
X-linked Alport syndrome is an inherited disorder caused by abnormal type IV collagen production. It is characterized by kidney disease, sensorineural hearing loss, and sometimes eye abnormalities such as cataracts. Blood in the urine (hematuria) and high levels of protein in the urine are typically the first signs of the disorder, followed by hearing loss. Kidney failure may occur in the teenage years but may not develop until as late as 40-50 years of age. Because this is an X-linked condition, males are more severely affected than females.
Prognosis for X-linked Alport syndrome depends on the severity of symptoms of the individual, which may vary. Affected individuals typically develop end-stage kidney failure by their fourth or fifth decade in life.
Treatment for X-linked Alport syndrome is symptomatic. Individuals are typically given medication--such as an ACE inhibitor--to help control high blood pressure. Kidney dialysis or transplantation is available for those with end-stage renal disease. Additionally, individuals may benefit from a hearing aid or surgery to remove cataracts.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results