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Spinal Muscular Atrophy (SMA) Mutation Detection Test

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Spinal Muscular Atrophy (SMA) Mutation Detection Test

Short Name: SMA Mutation Detection

Also known as: SMA Genetic Test, SMN1 Deletion Test, SMA Mutation Analysis

Spinal Muscular Atrophy (SMA) Mutation Detection Test test available at DNA Labs India for ₹14,000. Uses MLPA (Multiplex Ligation-dependent Probe Amplification) on Whole Blood samples. Results in If the sample is received in the lab by Monday 11:00 AM, the report is dispatched by Saturday. Reports are typically available within 5 working days. Delivery can be via email, WhatsApp, and online patient portal.. Free home collection in 300+ cities across India.

Molecular Genetics🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of the SMA Mutation Detection Test is to detect the common homozygous deletions of SMN1 exon 7 and/or exon 8, which account for about 95% of all SMA cases. This test is useful to: - Confirm a clinical diagnosis of spinal muscular atrophy - Distinguish SMA from other neuromuscular disorders - Provide genetic information for reproductive decision-making - Enable early initiation of disease-modifying therapy (e.g., nusinersen, risdiplam, onasemnogene abeparvovec) - Support genetic counseling for affected families

Test Code
3653
CPT Code
81401
ICD Code
G12.9
Price
₹14,000
Sample Type
Whole Blood
Result Time
If the sample is received in the lab by Monday 11:00 AM, the report is dispatched by Saturday. Reports are typically available within 5 working days. Delivery can be via email, WhatsApp, and online patient portal.
Fasting Required
No
Method
MLPA (Multiplex Ligation-dependent Probe Amplification)
Step 1

Sample Collection

No fasting required. Ensure the signed genomic clinical information requisition form (Form 20) is completed and submitted. The sample must be collected in an EDTA (lavender top) tube. If you are scheduling a home visit, keep the form ready for the phlebotomist.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist or nurse will collect 4 mL of venous blood into one lavender-top (EDTA) tube. The procedure is similar to a routine blood test and takes only a few minutes. For infants, a heel-prick capillary sample may be accepted after prior consultation.

Step 3

Report Delivery

The blood sample must be refrigerated (2-8°C) and shipped the same day. Do not freeze. The sample can be stored for up to 1 week when refrigerated. Freeze-thaw cycles may damage DNA.

Timeline: If the sample is received in the lab by Monday 11:00 AM, the report is dispatched by Saturday. Reports are typically available within 5 working days. Delivery can be via email, WhatsApp, and online patient portal.

Patient Instructions

1
Before the Test:No special preparation is needed. Fast not required. Ensure that you have your previous medical records and the doctor’s prescription. For home collection, confirm the appointment and keep the filled Form 20 ready.
2
During the Test:The phlebotomist will draw a small blood sample. There is no pain except a brief needle prick. For infants, the procedure is quick. You may feel slight dizziness – inform the phlebotomist immediately.
3
After the Test:You can resume your normal activities immediately. The blood sample will be transported to our laboratory. Test report will be uploaded on the portal within 5 days. A genetic counselor will be available for result explanation.

About This Test

Who Should Get This Test

The primary purpose of the SMA Mutation Detection Test is to detect the common homozygous deletions of SMN1 exon 7 and/or exon 8, which account for about 95% of all SMA cases. This test is useful to:

- Confirm a clinical diagnosis of spinal muscular atrophy
- Distinguish SMA from other neuromuscular disorders
- Provide genetic information for reproductive decision-making
- Enable early initiation of disease-modifying therapy (e.g., nusinersen, risdiplam, onasemnogene abeparvovec)
- Support genetic counseling for affected families

How to Prepare

  • Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.
  • Collect 4 mL whole blood in a lavender top (EDTA) tube.
  • Ship refrigerated at 2-8°C. Do not freeze.
  • Label the tube with patient name and unique identifier.
  • Avoid hemolysis during collection.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"For families with a history of SMA, genetic testing helps in carrier screening, prenatal diagnosis, and early confirmation of suspected cases. Timely detection allows informed family planning and early therapeutic intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume4 mL (2 mL min.)
ContainerLavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature
Refrigerator (2-8°C)
Frozen (-20°C)
Sample Rejection Criteria:
  • Unlabeled or misidentified sample
  • Clotted or hemolyzed blood
  • Sample received in a tube other than EDTA (e.g., plain, heparin, fluoride)
  • Sample frozen inadvertently
  • Incomplete or missing requisition form

Understanding Your Results

This genetic test identifies homozygous deletions of SMN1 exon 7 and/or exon 8. Interpretation is based on the presence or absence of these deletions.
📊

Homozygous deletion present in SMN1 exon 7 and/or exon 8

Consistent with a diagnosis of spinal muscular atrophy (SMA). Genetic counseling and clinical correlation with symptom onset and severity are recommended.

📊

No deletion detected

If clinical suspicion is high, consider other genetic causes such as point mutations in SMN1 or other motor neuron diseases. Further testing may be required for ~5% of SMA cases not detected by MLPA.

📊

Heterozygous deletion (carrier)

Indicates carrier status (one functional copy of SMN1 remains). This test is optimised for homozygous deletions and may not reliably detect carriers; confirmatory copy number assay is recommended.

⚠️ When to Consult a Doctor:

If you or your child experience muscle weakness, poor muscle tone (floppy baby), difficulty breathing or swallowing, or regression of motor milestones, consult a neurologist or pediatric neurologist. Genetic testing should be done under medical supervision. If you have a family history of SMA and are considering pregnancy, consult a genetic counselor before testing.

Limitations

  • ⚠This test detects only homozygous deletions of SMN1 exons 7 and 8; it does not detect point mutations or small intragenic rearrangements (~5% of SMA cases).
  • ⚠Carrier status (single SMN1 deletion) cannot be conclusively determined by this test alone; copy number analysis (SMN2 count) may be needed for carrier screening.
  • ⚠Results should be interpreted in the context of clinical symptoms and family history.
  • ⚠No test can predict disease severity solely based on SMN1 deletion status; SMN2 copy number is associated with phenotype but is not assessed in this test.

Risks & Considerations

  • ●Minimal bleeding or bruising at the venipuncture site
  • ●Rare risk of hematoma if pressure is not applied after collection
  • ●No significant medical risks associated with genetic testing
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Genetic information may have implications for family members

Interfering Factors

  • ●Contaminated or degraded DNA from improper sample handling
  • ●Sample received in a non-EDTA tube
  • ●Hemolyzed or clotted blood sample
  • ●Prior bone marrow transplantation (may cause mixed DNA chimerism)
  • ●Very low white blood cell count (rarely affects DNA yield)

Compare With Similar Tests

TestSpinal Muscular Atrophy (SMA) Mutation Detection Test
ComparisonSpinal Muscular Atrophy (SMA) Mutation Detection Test

Frequently Asked Questions

What is the cost of the SMA Mutation Detection Test at DNA Labs India?
The test costs ?14,000 inclusive of taxes. DNA Labs India also provides free home sample collection at this price across major cities.
What genetic mutations does this SMA test detect?
This test specifically detects homozygous deletions of SMN1 exon 7 and/or exon 8, which account for approximately 95% of all SMA cases.
How is the SMA Mutation Detection Test performed?
The test is performed using MLPA (Multiplex Ligation-dependent Probe Amplification) on a whole blood sample in an EDTA tube. It detects the presence or absence of SMN1 exons 7 and 8.
Can this test be used as a carrier screening test?
No. This test is optimised for affected individuals. Carrier screening requires accurate copy number analysis and SMN2 counting; you should ask for the SMA Carrier Screening test separately.
How long do the results take?
If the sample is received by Monday 11 AM, the report is ready by Saturday. In total, the turnaround time is about 5 working days.
Is fasting required before the sample collection?
No, this is a genetic test, and fasting is not required. You can eat and drink normally before the test.
What if my child is a newborn and has a positive newborn screening?
This test confirms SMA in newborns. A positive newborn screen is immediately followed by diagnostic SMN1 deletion testing. Early confirmation allows treatment to begin before symptoms appear.
Does this test detect all types of SMA?
It detects the most common cause of SMA (homozygous SMN1 deletion). Very rare point mutations (~5%) are not covered by this test. If the result is negative and suspicion remains, additional sequencing may be recommended.
Can I get a home sample collection for this test?
Yes, DNA Labs India offers free home blood sample collection across India for online bookings of the SMA Mutation Detection Test.
What sample type is accepted?
4 mL (minimum 2 mL) whole blood in a lavender top (EDTA) tube. The sample must be shipped refrigerated and never frozen.
Is the Form 20 mandatory?
Yes, the duly filled Genomics Clinical information requisition form (Form 20) is mandatory. It ensures that clinical data and consent are documented properly.
Are there any risks from the test?
The test only requires a small blood sample. The risks are minimal and limited to slight discomfort or bruising at the needle site.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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