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 beta-ketothiolase 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.
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body’s ability to process ketones, which are molecules produced during the breakdown of fats.
The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of six months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness, and occasionally seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods.
Prognosis depends on the severity of symptoms. In many cases, prognosis is considered favorable with early diagnosis and immediate treatment.
L-carnitine supplementation can be considered for some individuals. Glucose and bicarbonate via IV can additionally be used during periods of a metabolic crisis. Fasting should be avoided.
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