Genetic Testing for Spinal Muscular Atrophy (SMA)

The reproductive carrier screen is an at-home genetic test that helps individuals and couples understand their risk for having a child with a genetic disease, such as Spinal Muscular Atrophy.
Smiling woman looking at camera as man holds a sleeping baby on his shoulder indoors.

Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death, and it can affect a family with no warning at all.¹ Because carriers of SMA and many other recessive conditions show no symptoms, many parents don't find out they carry the gene change until after a diagnosis is made in their child.² Spinal muscular atrophy carrier screening checks for changes in the genes associated with SMA, so you can know your risk as you plan for a pregnancy.

Get Screened

What Is Spinal Muscular Atrophy?

SMA results in progressive muscle weakness caused by damage to the motor neurons that control movement. It can range widely in severity. Some infants lose the ability to sit up or breathe without support in their first months of life, while others aren't affected until adulthood and live with a much milder form of the condition.³ About 1 in 6,000 to 1 in 10,000 babies are born with SMA.²

SMN1

The gene associated with SMA. Most cases happen when a person inherits a missing or nonworking copy of SMN1 from each parent.⁴ A neighboring gene called SMN2 acts as a modifier and can influence how severe the condition is.⁴

Why Is Spinal Muscular Atrophy Carrier Screening Important?

Carriers are expected to show no symptoms themselves, which is what makes spinal muscular atrophy testing so valuable.² Treatments approved for SMA work best when they are initiated before symptoms appear, and infants diagnosed and treated early may reach significantly better motor milestones than those diagnosed after symptoms begin.²

Knowing your carrier status before pregnancy gives you and your doctor time to plan, whether that means further testing, fertility options, or being ready to act quickly at birth.

SMA happens when a child inherits two nonworking copies of a specific gene, one from each parent. A carrier has one working copy of the gene and one nonworking copy, and carriers are completely unaffected because the one working copy is sufficient to prevent symptoms from occurring. If both parents are carriers, each pregnancy has a 25% chance of the child inheriting a nonworking copy from each parent and being affected by SMA, a 50% chance of the child being an unaffected carrier like the parents, and a 25% chance of the child inheriting two working copies, and being considered a non-carrier of SMA.²

Understand Your SMA Carrier Risk

Between 1 in 40 and 1 in 60 people carry a change in the gene linked to SMA, most without ever knowing it, or having any evidence of the disease in their family.²

Carrier risk varies somewhat by ancestry, but SMA can affect any population, which is why spinal muscular atrophy carrier testing is recommended for everyone rather than those of specific ancestries.⁵

Ancestry
Carrier Risk (No Family History)
Caucasian

1 in 47

Ashkenazi Jewish

1 in 67

Asian

1 in 59

Asian Indian

1 in 52

Hispanic

1 in 68

African American

1 in 72

Carrier frequencies reflect the estimates from one published study.⁵

Who Should Consider Carrier Screening for Spinal Muscular Atrophy?

Unlike some genetic conditions that mostly affect specific ancestries, many ethnicities are at risk of being carriers for SMA. Most carriers will not have a family history of the condition either. Therefore, spinal muscular atrophy screening test is recommended for everyone considering a pregnancy, regardless of ethnicity or family history.⁶

1.

Planning a Pregnancy

Since SMA carriers have no symptoms, spinal muscular atrophy testing before or early in pregnancy is the only reliable way to know your risk ahead of time.²

2.

Family History of SMA

If a parent or sibling has been diagnosed with SMA, your own chance of carrying the gene change is higher than average.³

3.

A Partner Who Has Also Screened Positive

If your partner already knows they carry a change in the gene linked to SMA, screening for yourself is particularly important and will inform whether your child could be at increased risk of inheriting the condition.

4.

Using a Sperm or Egg Donor

Donor gametes can carry the same genetic mutations as a partner would, so screening applies in cases where donor sperm or eggs are being used to achieve a pregnancy.⁷

Easy Steps from Home to Results

No clinic visit required. jscreen was built for accessibility, privacy, and ease, so nothing stands between you and the knowledge you need.
a mailing envelope being received with a genetic screening kit inside

Order Your Kit

Register online and receive a saliva collection kit shipped directly to your home within a few days.

a mailing envelope being received with a genetic screening kit inside

Collect Your Sample

Provide a simple saliva sample at home, following the easy step-by-step instructions included in your kit.

a mailing envelope being received with a genetic screening kit inside

Lab Analysis

Your sample is analyzed at a CLIA-accredited laboratory using advanced sequencing technology across the full gene panel.

a mailing envelope being received with a genetic screening kit inside

Receive Results

 Receive your results within 3 to 4 weeks. You can choose to schedule a complimentary consultation with a certified genetic counselor to review your findings.

Costs and Insurance Coverage

jscreen is committed to making carrier screening financially accessible, regardless of your insurance status.

Insurance Billing

Most commercial insurance plans cover carrier testing for individuals and couples planning to start or expand their family. Insurance plans also often cover carrier testing for individuals with Ashkenazi Jewish heritage. Your final cost depends on your family history and specific insurance plan. Our care navigators are here to help you work through the process and connect you with our financial assistance programs as needed.

Self-Pay Option

Prefer not to use insurance? jscreen offers a straightforward, competitive self-pay rate of $249, plus the upfront fee of $49, for a total of $298. This covers lab testing fees, physician review and test ordering, and access to our genetic counselors and care navigators throughout the testing process.

Understanding Your Results

Every screen from jscreen is reviewed by board certified genetic counselors, and results generally fall into one of three categories.

Positive (Carrier)

What This Means:
A positive result means you carry one working copy and one nonworking copy of SMN1.² Carriers are not expected to have any symptoms of SMA, but can pass the nonworking copy on to a child. If you are planning a pregnancy, your partner should also be screened prior to conceiving, since your child's risk of inheriting SMA depends on whether your partner carries a change in the same gene.⁸

Negative

What This Means:
A small number of carriers cannot be identified by standard carrier screening. This happens when a person has two working copies of SMN1 sitting on the same chromosome, with no copies on the other chromosome. Standard screening counts how many total copies a person has, not which chromosome they sit on, so a person in this situation looks the same as someone with one normal copy on each chromosome. Roughly 4% of carriers fall into this category, sometimes called silent carriers.⁹ This phenomenon is found more commonly in certain populations as opposed to others. For this reason, a negative result lowers your risk of being a carrier significantly without reducing  it all the way to zero. A negative result means you have a significantly lower chance of being a carrier for SMA. No carrier screening test eliminates risk entirely.

If You and Your Partner Are Both Carriers

What This Means:
If both partners carry a mutation or deletion in SMN1, each pregnancy has a 25% chance of being affected by SMA.² Once a pregnancy is already ongoing, spinal muscular atrophy prenatal testing, such as chorionic villus sampling or amniocentesis, can directly check whether a current pregnancy is affected, giving you an answer during pregnancy rather than waiting until birth.⁸ Genetic counseling is strongly recommended at this stage, and every jscreen result comes with access to a board certified genetic counselor to walk through what your specific results mean and what your options are.⁸ Ideally, testing should be performed prior to conception for the greatest range of reproductive options.

Get a Genetic Test for Spinal Muscular Atrophy

A carrier screen can answer a question that might otherwise only surface after a child is born. Whether any of the patterns above sound familiar or you're simply starting a family, carrier screening is worth doing, not just having on your radar. It's a chance to know before you need to know.
Order Your Carrier Screen

Frequently Asked Questions

Can you test for spinal muscular atrophy?

Yes. Spinal muscular atrophy carrier testing can be done before or during pregnancy. This checks whether you or your partner carry a change or deletion in SMN1, the gene associated with SMA.

What do spinal muscular atrophy genetic testing results mean?

Results generally fall into three categories. A negative result means you're very unlikely to be a carrier, though it can't rule this out completely.⁹ A positive result means you carry one working and one nonworking copy of SMN1, with no health effects to you personally. ¹⁰

How do you do a spinal muscular atrophy test?

With a genetic carrier test via jscreen, the whole process happens from home. You order a kit online, provide a saliva sample using the instructions included, and mail it back using the prepaid materials in the kit. Your sample is analyzed at a CLIA-accredited laboratory, and results are typically available within 3 weeks of your sample arriving at the lab.

Can spinal muscular atrophy testing be done during pregnancy?

Yes. Carrier screening itself can be done before or during pregnancy, though earlier screening is preferred since it allows for more time to plan and a greater range of options. If you're already pregnant and both you and your partner are found to be carriers, spinal muscular atrophy prenatal testing, such as chorionic villus sampling or amniocentesis, can directly check whether the pregnancy is affected.⁸

Do I need genetic counseling after my results?

It isn't required, but it is strongly recommended, especially if your are found to be a carrier⁸ Every screen through jscreen includes access to a complimentary consultation with a board certified genetic counselor, who can explain what your specific results mean and what your options are going forward

What happens if my partner and I are both found to be carriers?

Each pregnancy would have a 25% chance of being affected by SMA.² In this case, most patients work with a genetic counselor to talk through their reproductive options, which can include prenatal diagnostic testing during a current pregnancy, and other family planning approaches if you haven't conceived yet.⁸

Still Have Questions?

We’d love to hear from you! Check our FAQ page, or contact us.

References

  1. Butchbach MER. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. International Journal of Molecular Sciences. 2021;22(15):7896. Published July 29, 2021. Accessed August 4, 2026.
    https://pubmed.ncbi.nlm.nih.gov/34360669/
  2. One in 40 Risk: Passing Spinal Muscular Disease. BGI Genomics. Published August 14, 2025. Accessed August 4, 2026.
    https://www.bgi.com/global/news/one-in-forty-risk-passing-spinal-muscular-disease
  3. Spinal Muscular Atrophy in Children. Cedars-Sinai Health Library. Published February 26, 2024. Accessed August 4, 2026.
    https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/s/spinal-muscular-atrophy-in-children.html
  4. Cuscó I, González S, Bernal S, et al. Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community. International Journal of Neonatal Screening. Published January 10, 2025. Accessed August 4, 2026.
    https://pubmed.ncbi.nlm.nih.gov/39846593/
  5. Spinal Muscular Atrophy: Genetic Concepts and Carrier Screening. The ObG Project. Published February 4, 2022. Accessed August 4, 2026.
    https://www.obgproject.com/2017/04/18/spinal-muscular-atrophy-genetic-concepts-carrier-screening/
  6. Mei JY, Platt LD. Reproductive Genetic Carrier Screening in Pregnancy: Improving Health Outcomes and Expanding Access. Journal of Perinatal Medicine. Published June 27, 2024. Accessed August 4, 2026.
    https://pubmed.ncbi.nlm.nih.gov/38924780/
  7. Carrier Screening for Family Planning. Mayo Clinic Health System. Published June 23, 2023. Accessed August 4, 2026.
    https://www.mayoclinichealthsystem.org/hometown-health/speaking-of-health/carrier-screening-for-family-planning
  8. Santoli CMA, Dotters-Katz SK, Sparks TN, Kuller JA. An Overview of Current Prenatal Genetic Screening and Diagnosis Guidelines. Pregnancy. Published April 10, 2025. Accessed August 4, 2026.
    https://doi.org/10.1002/pmf2.70016
  9. How Can a Silent Spinal Muscular Atrophy (SMA) Carrier Be Identified Using SMN1 Testing, and What Are the Recommended Follow-Up Steps? Droracle. Accessed August 4, 2026.
    https://www.droracle.ai/articles/1371884/how-can-a-silent-spinal-muscular-atrophy-sma-carrier
  10. Variant of Uncertain Significance (VUS). Genetics Glossary. National Human Genome Research Institute. Genome.gov. Accessed August 4, 2026.
    https://www.genome.gov/genetics-glossary/Variant-of-Uncertain-Significance-VUS
  11. Variants of Uncertain Significance, How to Think About Them. Personalized Integrative Care. Published November 19, 2025. Accessed August 4, 2026.
    https://www.surrogacy4all.com/variants-of-uncertain-significance-how-to-think-about-them/