Choose Quest for the screening your patients may need throughout their continuum of care
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 decision
1 in 50 people in the US are carriers2
The earlier you and your patients know, the sooner you can plan
Even if a couple already has healthy children and no family history of SMA, 1 or both may still be a carrier of the disease, regardless of age. There is a 50% chance a silent carrier will pass the abnormal chromosome to the fetus.3
If both parents are carriers:
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.
| TEST NAME | TEST CODE |
|---|---|
| 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:
QHerit® carrier screening
3 clinically relevant panels that screen only for diseases recommended in guidelines established by professional organizations.
QNatal® Advanced prenatal screening
A low-risk, noninvasive cell-free DNA (cfDNA) prenatal screen that can detect the most common fetal aneuploidies, including Down syndrome.
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 Neuromuscul Dis. 2020;7(1):1-13. doi:10.3233/JND-190424
Learn more about ReproSource female fertility testing
Genetic carrier screening
QHerit®, our innovative genetic carrier screening portfolio provides clinically relevant, right-sized panels that deliver information that you and your patients need to help plan their futures.
Genetic consultation available
Certified Genomic Science Specialists are available to help with test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463)
New podcast: The importance of early screening for SMA
Listen to Lisa Blazejewski, CGC, a genomic science specialist at Quest Diagnostics, talk about the complexity of the SMN1 gene in detecting silent carriers in a podcast from Contemporary OB/GYN.
Contact us
Contact us to receive additional information on our lab tests, services, and coverage
Pregnancy and Fertility links
Pregnancy and Fertility
-
Considering Pregnancy -
Pregnant Patients -
Spinal Muscular Atrophy Screening
- Site map
- Privacy Notices
- Terms
- Contact us
- Language assistance / non-discrimination
- Asistencia de idiomas / Aviso de no discriminación
- 語言協助 / 不歧視通知
- Accessibility
-
Your Privacy Choices
Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA-certified laboratories that provide HIPAA-covered services. Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA-covered services.
Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2025 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.