Spinal muscular atrophy with silent carrier screening
Increased detection for greater insights
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
SMA screening from Quest Advanced® provides greater insights on carrier status
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
- Detects the specific variant that helps to identify silent carriers
- Delivers timely, actionable results to empower more informed decisions
Typical:
2 copies of SMN1
Carrier:
1 copy of SMN1
Duplication:
3 copies of SMN1
Silent carrier:
2 copies of SMN1
25%
chance any child will have SMA4
50%
chance any child will not have the disease, but will be a carrier4
25%
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 SMA carrier screening provides increased detection for greater insights
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
39445
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.
A low-risk, noninvasive cell-free DNA (cfDNA) prenatal screen that can detect the most common fetal aneuploidies, including Down syndrome.
New treatment options may deliver improved quality of life for babies diagnosed with SMA.
Choose Quest for the screening your patients may need throughout their continuum of care
A leader in genetic testing
- Comprehensive testing solutions for the complete pregnancy journey
- Clinical consultation available from certifiedboard-certified genetic counselors for genetic test selection and results interpretation —call 1.866.GENE.INFO (1.866.436.3463)
Accessible testing
- In-network with most major health plans, and financial assistance for those who qualify
- More than 2,2502200+ Patient Service Centers and the MyQuest® patient mobile app and portal make testing convenient
Visit the Test Directory to review our advanced genetic tests, including SMA with silent carrier screening
Test codes may vary by location. Please contact your local laboratory for more information.
References:
- ObG Project. Spinal muscular atrophy: genetic concepts and carrier screening. Accessed April 30, 2020. https://www.obgproject.com/2017/04/18/spinal-muscular-atrophy-genetic-concepts-carrier-screening/
- SMA Foundation. About SMA: frequently asked questions. Accessed May 12, 2020. https://smafoundation.org/about-sma/faq/
- Biogen. What is spinal muscular atrophy (SMA)? Accessed May 13, 2020. https://www.togetherinsma.com/en_us/home/introduction-to-sma/smn1-gene.html
- ACOG. Committee opinion number 691: carrier screening for genetic conditions. March 2017 (reaffirmed 2020). Accessed July 8, 2020. https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screeningfor-genetic-conditions
- Prior TW, Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med.2008;10(11):840-842. doi:10.1097/GIM.0b013e318188d069
- Schorling DC, Pechmann A, Kirschner J. Advances in treatment of spinal muscular atrophy – new phenotypes, new challenges, new implications for care. J NeuromusculDis. 2020;7(1):1-13. doi:10.3233/JND-190424
Genetic consultation available
CertifiedBoard-certified Genomic Science Specialists are available to help with test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463)
