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.
What Your Test Results Mean:
Test results indicate that you are a carrier of alkaptonuria. Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of alkaptonuria for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
Alkaptonuria is an inherited disorder caused by an enzyme deficiency that results in a build-up of homogentisic acid in the body. Over time, this build-up causes the connective tissues, such as the skin and cartilage, to darken. In individuals with alkaptonuria, homogentisic acid is also excreted into the urine, which then turns black upon immediate exposure to air. Arthritis occurring in the larger joints and the spine is also seen with alkaptonuria. Additional signs and symptoms include heart problems, kidney stones, and prostate stones.
Alkaptonuria is not known to decrease the lifespan of affected individuals, nor does it cause any developmental delays. However, quality of life can be affected as issues with mobility and joint pain can develop.
Treatment of alkaptonuria is symptomatic and tailored to the individual. Medications such as anti-inflammatories can be beneficial in treating joint pain. Individuals may additionally benefit from physical and occupational therapy. Some individuals may also require surgical intervention to replace certain joints by 50-60 years of age.
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