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Spinal Muscular Atrophy Carrier Screening

The SMA carrier test is a genetic blood test that checks for changes in the SMN1 gene linked to spinal muscular atrophy. It helps determine whether a person carries a mutation that could be passed to a child.

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Quick answer

The spinal muscular atrophy carrier test is a genetic blood test that looks for changes in the SMN1 gene. Spinal muscular atrophy is an inherited condition that affects motor neurons and muscle strength, and carriers usually have no symptoms. The test is commonly offered to people who are planning a pregnancy or are already pregnant, and to those with a family history. Genetic counseling helps interpret the result and explain the implications.

What this test measures

Spinal muscular atrophy is caused by loss or alteration of the SMN1 gene, which is needed for the survival of motor neurons. When both copies of SMN1 are affected, the condition can cause progressive muscle weakness. Carriers have one functional copy and typically do not have symptoms, but they can pass the altered gene to a child. Carrier testing helps clarify reproductive risk.

The test analyzes a blood sample for the number and structure of SMN1 gene copies. Some carriers have a single copy, while others have two copies with a small change that affects function, and the testing method is designed to detect the most common patterns. Because the genetics can be complex, results are interpreted by specialists.

Carrier testing is often paired with genetic counseling so that results can be explained clearly. If both partners are carriers, the chance of having an affected child is higher, and options can be discussed with a qualified healthcare provider. The test provides information and does not by itself diagnose a condition in an adult.

  • SMN1 gene copy number
  • SMN1 sequence variants
  • SMN2 gene copy number
  • Deletion analysis of exon 7
  • Point mutation analysis when indicated
  • Carrier status determination

Why people order this test

  • Assess carrier status before or during pregnancy
  • Evaluate reproductive risk when there is a family history
  • Support genetic counseling decisions
  • Follow up a family history of an abnormal newborn screening result
  • Provide information for family planning discussions
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How to prepare

No fasting is required. A blood sample is collected from a vein, usually at the arm. Because this is a genetic test, the ordering provider may recommend genetic counseling before or after testing; follow the instructions provided with the order.

Understanding your results

Results are typically available within one to three business days for standard processing. The report describes the number and pattern of SMN1 gene copies. A qualified healthcare provider or genetic counselor explains what the result means for carrier status and reproductive planning.

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Frequently Asked Questions

What is spinal muscular atrophy?

It is an inherited condition that affects motor neurons and causes progressive muscle weakness. It is caused by changes in the SMN1 gene.

What does it mean to be a carrier?

A carrier has one altered copy of the SMN1 gene and usually has no symptoms, but can pass the altered gene to a child.

How is the test performed?

A blood sample is analyzed in a laboratory to check the SMN1 gene for the changes associated with the condition.

Do I need to fast?

No. Fasting is not required for a genetic blood test.

Should I see a genetic counselor?

Genetic counseling is often recommended before or after carrier testing so the result and its implications can be explained clearly.

Ready to get tested?

Order online and visit a collection site near you, or choose a mail-in kit. No referral and no insurance required.

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Medical disclaimer. The information on LabOrdering.com is educational only and is not medical advice, diagnosis, or treatment. Reference ranges and clinical guidance vary between laboratories. Always consult a qualified healthcare provider about your own results and care.