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?

Sialic Acid Storage Disorders

What Your Test Results Mean:

Test results indicate that you are a carrier of sialic acid storage disorders. 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.

Disease Explained:

Sialic acid storage disorders are inherited disorders that affect an individual’s nervous system. They cause slow, progressive decline in motor and mental skills. The disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease.

Prognosis

The prognosis for individuals with one of the sialic acid storage diseases can vary depending on the type and severity of the individual’s symptoms. Children with the ISSD form of the condition usually live only into early childhood. While the lifespan for people with Salla disease is typically not significantly shortened, these individuals are also typically quite disabled and most likely need lifelong care, as only one-third of affected children learn to walk and speech can be poor. Few cases of intermediate severe Salla disease are known, making it difficult to describe the prognosis for affected individuals.

Treatment

There is no cure available for any of the sialic acid storage diseases, but treatments do exist to manage some of the symptoms and improve individuals’ quality of life. In general, people with any type of sialic acid storage disease benefit from therapies aimed at optimizing their mobility and motor function (physical and occupational therapy) as well as their communication abilities (speech therapy). Those individuals who reach school age should attend schools with adequate special education programs. Individuals should also receive the standard medical treatments to manage their seizures and any other complications.

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