Spinal Muscular Atrophy (SMA) Carrier Detection Test
Short Name: SMA Carrier Detection
Also known as: SMA Carrier Test, SMN1 Deletion Analysis, SMA Genetic Carrier Screening
Spinal Muscular Atrophy (SMA) Carrier Detection Test test available at DNA Labs India for ₹14,000. Uses Multiplex Ligation-dependent Probe Amplification (MLPA) on Whole Blood samples. Results in Samples received by Monday 11 AM are processed and reports are dispatched by Saturday. Turnaround time is typically 5 days.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify carriers of a mutation in the SMN1 gene, the most common genetic cause of spinal muscular atrophy. By detecting deletions of SMN1 exon 7 and/or exon 8, the test provides information about an individual's carrier status. This allows couples to understand their risk of having a child with SMA and make informed reproductive decisions, including consulting a genetic counsellor or undergoing prenatal diagnosis.
- Test Code
- 3657
- Price
- ₹14,000
- Sample Type
- Whole Blood
- Result Time
- Samples received by Monday 11 AM are processed and reports are dispatched by Saturday. Turnaround time is typically 5 days.
- Fasting Required
- No
- Method
- Multiplex Ligation-dependent Probe Amplification (MLPA)
Sample Collection
No special preparation such as fasting is required. However, it is mandatory to fill the Genomics Clinical information requisition form (Form 20) before sample collection. Please ensure you have your doctor's requisition and a valid ID proof.
Method: Venipuncture
Laboratory Analysis
A healthcare professional will collect a small amount of blood (4 mL) from a vein in your arm into an EDTA tube. The procedure takes only a few minutes.
Report Delivery
You can resume your normal daily activities immediately after the collection. There are no specific restrictions.
Timeline: Samples received by Monday 11 AM are processed and reports are dispatched by Saturday. Turnaround time is typically 5 days.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify carriers of a mutation in the SMN1 gene, the most common genetic cause of spinal muscular atrophy. By detecting deletions of SMN1 exon 7 and/or exon 8, the test provides information about an individual's carrier status. This allows couples to understand their risk of having a child with SMA and make informed reproductive decisions, including consulting a genetic counsellor or undergoing prenatal diagnosis.
How to Prepare
- Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.
- Ship the sample refrigerated. Do not freeze.
- Label the sample tube carefully with patient name and ID.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Carrier screening is a vital step for couples planning a family. It helps identify the risk of passing on SMA and enables informed reproductive decisions. I recommend SMA carrier screening for all couples, especially those with a family history of the condition."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Hemolyzed sample
- Sample received frozen
- Insufficient volume (less than 2 mL)
- Unlabeled or mislabeled sample
Understanding Your Results
Indicates that the individual does not have deletion in exon 7 or exon 8 of SMN1. The person is most likely a non-carrier, though there is a residual risk due to rare mutations not covered by this test.
One copy of the SMN1 gene has a deletion, while the other is normal. The individual is a carrier of SMA but does not have the disease.
Both copies of the SMN1 gene have a deletion. This is generally indicative of SMA (affected status), and further clinical evaluation is required.
It is recommended to consult a genetic counsellor or your physician after receiving the report to understand the results, especially if you are a known carrier or have a family history of SMA. Couples planning a pregnancy should discuss the implications with their healthcare provider.
Limitations
- ⚠This test detects exon 7 and exon 8 deletions of the SMN1 gene, which account for about 95% of SMA-causing mutations. Point mutations and other rare deletions may not be identified.
- ⚠The test does not distinguish whether two SMN1 copies are on the same chromosome (cis) or different chromosomes (trans), which can affect carrier risk interpretation in some cases.
- ⚠A negative result significantly reduces but does not completely eliminate the chance of being a carrier.
Risks & Considerations
- ●Minimal pain or bruising at the puncture site.
- ●Rare risk of infection or excessive bleeding.
- ●Feeling lightheaded during or after blood draw.
Interfering Factors
- ●Improper sample collection leading to haemolysis
- ●DNA degradation due to sample transported at room temperature for extended periods
- ●Rare sequence variants that are not detected by MLPA
- ●Contamination of the sample
Compare With Similar Tests
| Test | Spinal Muscular Atrophy (SMA) Carrier Detection Test | SMA Carrier Detection Test | SMA Diagnostic Test |
|---|---|---|---|
| Comparison | Spinal Muscular Atrophy (SMA) Carrier Detection Test |
Frequently Asked Questions
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