Spinal Muscular Atrophy (SMA) Carrier Testing

The Spinal Muscular Atrophy (SMA) Genetic Test is a blood test used to determine carrier status and support prenatal diagnosis for spinal muscular atrophy. SMA is a serious inherited neuromuscular disorder that affects motor nerve cells in the spinal cord, leading to progressive muscle weakness and loss of movement.

SMA is caused by mutations or deletions in the SMN1 (Survival Motor Neuron 1) gene. This gene is responsible for producing a protein essential for the survival of motor neurons. When insufficient SMN protein is produced, motor neurons gradually degenerate, resulting in muscle weakness that can affect movement, swallowing, breathing, and overall muscle control.

SMA is inherited in an autosomal recessive pattern, meaning a child must inherit a faulty SMN1 gene from both parents to be affected. If both parents are carriers, each pregnancy carries a 25% chance of having a child with SMA. Carrier screening plays a critical role in reproductive planning and early decision-making.

SMA symptoms vary in severity. The most severe and common form, historically referred to as Type I (Werdnig-Hoffmann disease), often presents in infancy and can lead to respiratory failure if untreated. Early genetic identification allows for timely medical intervention and informed family planning decisions.

What Is Included In This Test?

This test includes:

• Analysis of the SMN1 gene for deletions or mutations
• Determination of carrier status
• Clear laboratory results for clinical interpretation.

Why Does This Test Matter?

Spinal muscular atrophy is one of the most common inherited causes of infant mortality. Identifying carrier status allows individuals and couples to understand their genetic risk before or during pregnancy.

Carrier screening is especially important because many carriers have no symptoms and no family history of the condition. Without testing, individuals may be unaware of their reproductive risk.

Early diagnosis through genetic testing enables access to modern treatment options, early interventions, and specialized medical care that can significantly improve outcomes.

Genetic clarity empowers families to make informed decisions, pursue genetic counseling, and plan with confidence.

Who Should Consider This Test?

You may consider this test if you:

• Are planning a pregnancy
• Are currently pregnant
• Have a family history of spinal muscular atrophy
• Have a partner who is a known SMA carrier
• Are seeking preconception genetic screening
• Have had an abnormal prenatal screening result
• Have a child diagnosed with SMA
• Are undergoing fertility treatment
• Want expanded genetic carrier screening
• Are seeking genetic counseling for inherited conditions

Convenient, No-Appointment Testing

To complete your test:

1. Order online through our website
2. Use the lab locator to find a nearby testing location
3. Walk in; no appointment required
4. Access your results securely in your HealthLabs.com account within one to three business days

110% Price Guarantee!

If you find the same test for a lower price from a comparable provider, contact us. We not only match the price, we beat it by an additional 10 percent of the difference.