Spinal muscular atrophy (SMA) is a progressive, neuromuscular genetic disease that affects motor nerve cells in the spinal cord and is a leading cause of infant mortality.1
Although conventional screening for SMA typically determines total SMN1 copy number, it does not include any information about how those copies are arranged, which limits the ability to identify silent carriers.
Quest SMA screening does more to minimize uncertainty
2 copies of SMN1
1 copy of SMN1
3 copies of SMN1
2 copies of SMN1
chance any child will have SMA4
chance any child will not have the disease, but will be a carrier4
chance any child will not have the disease and will not be a carrier3
Early screening is recommended by the American College of Obstetricians and Gynecologists (ACOG)4 and the American College of Medical Genetics5
Quest is a pioneer in SMA screening, delivering the first commercial test to market and providing a full portfolio of carrier screening options to help you ensure the healthiest possible outcomes for your patients.
Spinal Muscular Atrophy (SMA) Carrier Screen
SMA with silent carrier screening is part of our comprehensive genetic carrier and prenatal screening portfolio that includes:
3 clinically relevant panels that screen only for diseases recommended in guidelines established by professional organizations.Learn more
A low-risk, noninvasive cell-free DNA (cfDNA) prenatal screen that can detect the most common fetal aneuploidies, including Down syndrome.Learn more
A leader in genetic testing
Visit the Test Directory to order our advanced genetic tests, including SMA with silent carrier screening
Test codes may vary by location. Please contact your local laboratory for more information.
Certified genetic counselors are available to help with test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463).