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.
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
What Your Test Results Mean:
Test results indicate that you are a carrier of very long chain acyl-CoA dehydrogenase deficiency (VLCAD). Carriers are not expected to show symptoms. You and your partner would both have to be carriers of VLCAD 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.
VLCAD is an inherited disorder that prevents the body from converting certain fats to energy, particularly during fasting periods. Symptoms of VLCAD usually appear during infancy or early childhood and can include low blood sugar, lack of energy, and muscle weakness. Serious complications include liver abnormalities and life-threatening heart problems. Individuals with the later onset form may experience muscle breakdown that can cause damage to the kidneys. The later the symptoms first develop, the milder the disorder. Affected individuals exhibit the most problems during periods of fasting, illness, and exercise.
With early diagnosis and treatment, prognosis is very good. Affected individuals can live symptom-free with proper management. If left untreated however, the disease could be fatal.
Treatment for affected individuals involves a special diet and the avoidance of fasting. Management is typically overseen by a group of metabolic specialists and is usually lifelong.
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