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.
Overview of Sma Carrier Detection in Kottayam
What is the SMA Carrier Detection Test?
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.
Who should take this test?
SMA carrier testing is recommended for people with a family history of SMA, couples preparing to become parents, and those receiving genetic counselling.
How is the test performed?
To find mutations or deletions in the SMN1 gene, a blood sample is obtained, and DNA is examined.
What do positive results indicate?
If the test is positive, the person is a carrier of SMA and could potentially transmit the faulty gene on to their children.
What happens after a positive result?
To determine the partner's risk of passing SMA on to future children, genetic counselling and testing may be advised.
Test included
- Preliminary Report
- Sma Carrier Detection
Doctor information
Test code
9443
CPT and Loinc codes
Department
- Advanced Molecular Diagnostics R&d
Turn around time
8 Working Days
Test run frequency
Every Day TIME - 09:30
Performing locations
1 labs across India
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
Package price
₹13650
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₹13650