Single-gene screening
Dedicated genetic testing
for spinal muscular atrophy
Screening for Spinal muscular atrophy
In addition to a comprehensive screening for more than 500 genetic disorders (Inheritest), we also offer screening for specific disorders, such as spinal muscular atrophy (SMA).
Why focus on SMA screening?
The purpose of SMA carrier screening is to determine if a couple is at increased risk for having a child with SMA, the leading genetic cause of infant death.1
You could be a carrier of SMA even if no one in your family has SMA and even if you already have children without SMA. Carriers of the abnormal gene have no symptoms of the disorder. As with most inherited disorders, the risk for being an SMA carrier varies by ethnic background2 (see table below).
| Ethnicity | SMA carrier risk in people with no family history of SMA |
|---|---|
| Caucasian | 1 in 47 |
| Asian Indian | 1 in 52 |
| Asian | 1 in 59 |
| Ashkenazi Jewish | 1 in 67 |
| Hispanic | 1 in 68 |
| African American | 1 in 72 |
The screening test requires a blood, saliva or buccal swab sample and results are typically ready within 8-14 days. If a couple has not yet conceived, one partner is usually tested first. If a woman is already pregnant, a couple may opt to be tested at the same time.
If both parents are carriers of an altered SMA gene, there is a chance their child will be affected.
Learn more about how inherited disorders like SMA are passed on.
Additional Resources
Understanding Costs
Use our cost estimator get an immediate estimate for most tests we offer based on your specific insurance plan (so have your policy number handy).
Understand Your Results
If you have already had a test, we can answer questions about your results.
Genetic Counseling
Genetic counselors translate and communicate genetic information into practical, understandable terms.
References
- Carrier Screening for Genetic Conditions. ACOG Committee Opinion No. 691, March, 2017
- Sugarman EA, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; 20:27-32.