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.
Short Chain Acyl-CoA Dehydrogenase Deficiency
What Your Test Results Mean:
Carriers typically show no symptoms. Risk for 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 for 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 and their own personal clinical management.
Short-chain Acyl-CoA dehydrogenase deficiency (SCADD) is an inherited metabolic disorder that prevents the body from converting certain types of fats into energy. Its symptoms can be triggered by illness or long periods without food.
Infants affected by the disease may display episodes of vomiting, low blood sugar, and fatigue. These episodes can be fatal. Affected infants may have difficulty feeding and fail to grow at the expected rate. Some show poor muscle tone, seizures, and small head size. If the disease is untreated, the child may show developmental delays and permanent learning difficulties. Some people with SCADD do not display any symptoms until adulthood. In these cases, the main symptom is chronic muscle weakness. Some may experience periods of pain, nausea, and shortness of breath. It is thought that many cases are so mild that they are never diagnosed.
In individuals with SCADD who display symptoms, response to treatment varies. Some treated individuals may live typical, healthy lives, while others may continue to experience learning delays and muscle weakness. Acute, life-threatening episodes are rare.
For individuals who are asymptomatic, treatment entails avoiding both dehydration and long periods of fasting (fasting for longer than 12 hours). Intravenous fluids and sugars may be given to affected individuals having a metabolic crisis.
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