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What is a SPINAL MUSCULAR ATROPHY (SMA) CARRIER DETECTION?

The Spinal Muscular Atrophy (SMA) Carrier Detection Test is a genetic screening test that identifies whether an individual carries mutation in the SMN1 gene, which are responsible for spinal muscular atrophy. This test is performed to assess carrier status in healthy individuals, especially those with a family history or planning pregnancy. Detecting carriers is crucial for genetic counseling, understanding reproductive risks, and making informed decisions about family planning and early intervention strategies.

Additional Information

Also known as/ Other names: SMA Carrier Screening, SMN1 Gene Deletion Carrier Test, Spinal Muscular Atrophy Carrier Test, SMA Carrier Status Analysis, SMN1 Deletion Carrier Detection, SMA Carrier Risk Assessment, Spinal Muscular Atrophy – Carrier Screen
Parameters: 1
Recommended for: M/F/Others
Sample Type: Blood
Patient Preparation: No prior preparation is needed
Reports: 15 Days

FAQs

Which gene is analyzed in this test?

The test specifically examines the SMN1 gene, whose mutations are responsible for spinal muscular atrophy, to determine if an individual is a carrier.

Can this test detect all SMA carriers?

It detects most carriers, but rare mutations may require advanced genetic sequencing or additional confirmatory tests for complete accuracy.

Is this test useful before pregnancy?

Yes, it is highly recommended for couples planning pregnancy to assess reproductive risks and explore options like IVF with genetic screening.

Can two carriers have healthy children?

Certainly, but there is a 25% chance of having an affected child, 50% chance of a carrier, and 25% chance of a non-carrier in each pregnancy.

Does a negative result mean no risk?

A negative result greatly reduces risk but cannot completely eliminate it, as rare mutations may not be detected.

Can this test guide IVF or prenatal testing?

Yes, results help couples decide on assisted reproductive techniques or prenatal genetic testing to reduce risk of SMA in offspring.

Can this test be combined with other screenings?

Yes, it is often included in expanded carrier screening panels that test for multiple genetic conditions simultaneously.

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