Spinal Muscular Atrophy Screen
With over 99% accuracy, the NxGen MDx screen for spinal muscular atropy is one of the world’s most accurate tests for detecting genetic markers that may affect pregnancy and future child development.
What Is It?
Spinal muscular atrophy (SMA) is a severe and often fatal genetic disorder. It is the the most common inherited cause of infant death in children under the age of two. SMA affects the muscles needed for many essential functions, like breathing, eating, and movement. Individuals with SMA become progressively weaker (atrophy) and die. There is currently no treatment for SMA. To learn more about SMA, view or download the Fact Sheet.
Who Should Take It?
• All individuals of childbearing age, regardless of gender
• All individuals with a family history of genetic disorders
• All individuals with partners that are carriers of a genetic disorder
• Those considering in vitro fertilization
• Pregnant women
When testing, our laboratory analyzes all of the coding DNA in a gene to determine if any disease-causing pathogenic variants are present. By sequencing all of the coding DNA in a gene, instead of just a portion, we are able to offer the most accurate genetic testing available, regardless of your ethnicity. The majority of laboratories are only sequencing a portion of the gene, leaving room for error with missed pathogenic variants, especially when testing a variety of ethnicities. By sequencing the entire gene, NxGen MDx testing eliminates the doubt in a negative result and drastically reduces the residual risk, regardless of ethnicity.
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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