Sma Carrier Detection
This test screens for carriers of spinal muscular atrophy (SMA), a genetic disorder that affects motor neurons and leads to muscle weakness. Carrier detection helps in genetic counseling for couples planning to have children.
Sma Carrier Detection Test in Vadodara Overview
No special preparations needed
- Preliminary Report
- Sma Carrier Detection
People who contain mutations in the SMN1 gene, which can be passed on to children and result in spinal muscular atrophy, are identified using the SMA (Spinal Muscular Atrophy) Carrier Detection test.
SMA carrier testing is recommended for people with a family history of SMA, couples preparing to become parents, and those receiving genetic counselling.
To find mutations or deletions in the SMN1 gene, a blood sample is obtained, and DNA is examined.
If the test is positive, the person is a carrier of SMA and could potentially transmit the faulty gene on to their children.
To determine the partner's risk of passing SMA on to future children, genetic counselling and testing may be advised.
Test code
9443
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Edta Whole Blood | Lavender Vacutainer | 3 ML |
Specimen stability information
Edta Whole Blood
Collection instructions
Clinical History
Specimen rejection criteria
Test run frequency
Every Day TIME - 09:30
Turn around time
8 Working Days
Performing locations
Department
- Advanced Molecular Diagnostics R&d
CPT and Loinc codes
Package price
₹7200
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₹7200