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:
Carriers are not expected to show symptoms. You and your partner would both have to be carriers of SLC26A2-related disorders 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.
SLC26A2-related disorders are a group of inherited disorders of cartilage and bone formation. These diseases include: achondrogenesis type 1B, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia.
Achondrogenesis type 1B is a severe skeletal dysplasia characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. Fingers and toes are short, and feet may be rotated inwards. Affected individuals may have a soft outpouching near the belly button (umbilical hernia) or the groin (inguinal hernia).
Diastrophic dysplasia is characterized by short stature, short arms and legs, clubfoot, cleft palate, swelling of the ears, hitchhiker thumbs, progressive abnormal curvature of the spine, joint pain, and joint abnormalities called contractures, which restrict movement. These individuals typically have a normal head size and the condition does not usually affect intelligence. Multiple epiphyseal dysplasia is characterized by joint pain, early-onset arthritis, malformations of the hands, cleft palate, club foot, and abnormal curvature of the spine. Individuals with this condition typically reach normal height.
Prognosis varies depending on the specific variant in the SLC26A2 gene. Infants with achondrogenesis type 1B typically die prenatally or soon after birth. The mechanism of prenatal death is unknown, but newborns typically die of respiratory failure. Individuals with diastrophic dysplasia typically live into adulthood and do not have life-threatening breathing problems. These individuals will face physical challenges with walking and other movement and may rely on various mechanical aids for mobility. Individuals with multiple epiphyseal dysplasia have a better prognosis, as they have a normal lifespan and can perform most daily activities. However, they may have chronic joint pain and some bone abnormalities.
Treatment varies depending on the specific change in the SLC26A2 gene. Treatment for individuals with achondrogenesis type 1B is strictly palliative care. Treatment of diastrophic dysplasia focuses on maintaining joint mobility through physiotherapy and casting. Surgery may be necessary to address scoliosis and clubfoot for affected individuals as well. Physiotherapy may also be used to treat individuals with multiple epiphyseal dysplasia to maintain optimal muscle strength.
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