Lab test

Spinal Muscular Atrophy (SMA) Carrier Test

This genetic test checks for carrier status and, in some settings, prenatal diagnosis related to spinal muscular atrophy (SMA), an inherited condition affecting motor neurons.

Typical price

From $1398

Results

1-3 business days

Preparation

See preparation notes below

Sample

Blood draw or sample collection at a local center

This genetic test checks for carrier status and, in some settings, prenatal diagnosis related to spinal muscular atrophy (SMA), an inherited condition affecting motor neurons. It typically measures the number of copies or the presence of deletions in the SMN1 gene. Because SMA is inherited in an autosomal recessive pattern, carriers usually have no symptoms but can pass the condition to a child.

• SMN1 gene copy number and exon 7 deletion The primary genetic marker used to identify SMA carriers and affected individuals.

• People planning a pregnancy or currently pregnant.
• Individuals with a family history of SMA.
• Couples considering carrier screening.
• People of any background seeking reproductive genetic information.
• Anyone with a partner known to be an SMA carrier.

• No fasting is required for genetic carrier testing.
• Take usual medications unless told otherwise.
• Share family history and reproductive plans with the provider.
• A standard blood draw or cheek swab may be used, depending on the test.
• Genetic counseling is advised before and after testing.

A reduced SMN1 copy number or a detected deletion can indicate carrier status, while certain patterns may indicate an affected individual. Because results can have family-planning implications, they are best reviewed with a genetic counselor. The test does not predict severity in every case. Discuss the findings with a healthcare provider and genetic counselor before making decisions.

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