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 Does NxGen MDx Screen For?

Carnitine Palmitoyltransferase IA Deficiency

What Your Test Results Mean:

Carriers are not expected to show symptoms of this deficiency. You and your partner would both have to be carriers of carnitine palmitoyltransferase IA deficiency 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.

Disease Explained:

Carnitine palmitoyltransferase IA deficiency (CPT1A deficiency) is an inherited metabolic disorder that prevents the body from converting certain types of fats into energy. Individuals with CPT1A deficiency are developmentally and cognitively normal but during periods of metabolic crisis may show symptoms including vomiting, low blood sugar, lack of energy, and failure to thrive. Without proper management, CPT1A deficiency results in organ damage. Pregnant women whose fetus has a diagnosis of CPT1A deficiency are at risk for pregnancy complications such as fatty liver.

Prognosis:

Prognosis is considered favorable with treatment. However, if left untreated, irreversible neurological damage can occur and the disease can be fatal. As long as individuals are managing CPT1A deficiency with treatment, most can live fairly normal lives.

Treatment:

A high-carbohydrate, low-fat diet is recommended, and fasting should be avoided. Infants are recommended to eat frequently during the day and have uncooked cornstarch continuously at night. Diet and medications are typically managed by a metabolic physician and dietitian.

Which Screens Are Right for You?

Determining which screens or set of screens are right for you will depend on where you are in your reproductive journey. Tell us where you are today so you can learn more about how to move forward tomorrow.

Planning to Have a Baby Already Expecting
Which Screens Are Right for You?

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