Quest Women's Health

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.

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.

Learn more

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.

Learn more

GDSP cfDNA Panel

Learn more

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

male and female fertility

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