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Clinical · Rare Disease
MLPA · SMN1 & SMN2 Genes

SMA Carrier Analysis

Spinal Muscular Atrophy — The #1 Inherited Cause of Infant Death. Know Your Risk.

Spinal Muscular Atrophy (SMA) is the leading inherited cause of infant mortality, affecting approximately 1 in 10,000 live births. With a carrier frequency of 1 in 40 to 1 in 60, SMA is more common than most people realize — and most carriers are completely asymptomatic. Caused by deletions or mutations in the SMN1 gene, SMA causes progressive degeneration of motor neurons, leading to muscle weakness and atrophy. This MLPA-based test analyzes both SMN1 and SMN2 genes to determine your carrier status and help protect your family's future — especially with life-changing new treatments now available if diagnosed early.

★★★★★
5.0 (Verified clinical test) NABL & CAP lab
Sample type
Blood + Saliva
Turnaround
3–4 weeks
Genes analyzed
SMN1 + SMN2
Technology
MLPA
SMA Spinal Muscular Atrophy Genetic Test
Four types of SMA — severity depends on SMN2 copies
1
SMA Type 1
Onset: <6 months
Most severe
2
SMA Type 2
Onset: 6–18 months
Intermediate
3
SMA Type 3
Onset: >18 months
Milder
4
SMA Type 4
Onset: Adult
Mild
What you'll discover

SMN1 carrier status

Whether you carry a deletion or mutation in the SMN1 gene — the primary cause of SMA in 95% of cases

SMN1 gene analysis

SMN2 copy number

Number of SMN2 gene copies — determines disease severity if SMA is present. More copies = milder disease

Severity predictor

Family planning risk

If both partners are carriers, each pregnancy has 25% chance of SMA — critical for family planning decisions

Reproductive risk

Treatment eligibility

Early SMA diagnosis enables access to revolutionary treatments like Zolgensma, Spinraza, and Evrysdi

Life-changing therapy

Newborn screening basis

Early diagnosis in newborns before symptom onset enables treatment before motor neuron loss occurs

Pre-symptomatic

Diagnostic confirmation

For children with motor weakness or developmental delays — confirms or rules out SMA as the genetic cause

Diagnostic clarity
How it works
1

Order online

Place your order. Home collection kit ships within 24 hours — EDTA blood tube and saliva swab included.

2

Blood + Saliva sample collection

2ml EDTA blood + saliva swab at home. Return using prepaid courier label provided in your kit.

3

MLPA analysis — SMN1 & SMN2

Multiplex Ligation-dependent Probe Amplification (MLPA) detects deletions, duplications, and copy number variants in both SMN1 and SMN2 genes in our NABL & CAP accredited lab.

4

Detailed report + consultation

Comprehensive SMA carrier report in 3–4 weeks — SMN1 status, SMN2 copy number, carrier/affected status, and personalized family planning and management guidance.

Sample report preview

Your SMA Carrier Analysis Report

A snapshot of your SMN1 & SMN2 gene analysis report

SMN1 Status
Carrier
1 copy deleted
SMN2 Copies
2 copies
Normal range
Disease Status
Carrier
Asymptomatic
Child Risk
25%
If partner also carrier
SMN1 copy number analysis
SMN2 copy number
Carrier / Affected / Clear
Severity prediction
Family planning guidance
Clinician-ready report
Frequently asked questions
Who should consider SMA carrier testing?
SMA carrier testing is recommended for couples planning to have children — especially those with a family history of SMA or unexplained infant deaths, parents of a child with SMA, individuals with relatives who are SMA carriers, and pregnant women or their partners. Many genetic medicine societies now recommend SMA carrier screening for all couples planning to conceive, as carriers are typically asymptomatic and have no family history.
Why does SMN2 copy number matter?
SMN2 is a backup gene that can partially compensate for non-functioning SMN1. The number of SMN2 copies someone carries significantly affects disease severity when SMA is present. Generally, 1–2 SMN2 copies leads to the most severe SMA (Type 1), 3 copies to Type 2, and 4+ copies to milder Type 3 or 4. This information also helps guide treatment decisions, as newer therapies like Spinraza target SMN2 to boost protein production.
What treatments are now available for SMA?
SMA treatment has been revolutionized in recent years. Three FDA and CDSCO-approved treatments are now available: Nusinersen (Spinraza) — an intrathecal injection that modifies SMN2 splicing; Onasemnogene abeparvovec (Zolgensma) — a one-time gene therapy that replaces the SMN1 gene; and Risdiplam (Evrysdi) — an oral daily medication that increases SMN protein from SMN2. These treatments are most effective when started before symptom onset, making early genetic diagnosis critical.
What is MLPA and why is it used for SMA testing?
MLPA (Multiplex Ligation-dependent Probe Amplification) is a highly sensitive technique that detects deletions, duplications, and copy number changes across multiple genes simultaneously. It is the gold-standard method for SMA testing because 95% of SMA cases are caused by homozygous deletion of exon 7 in SMN1, which MLPA detects with high accuracy. MLPA also quantifies SMN2 copy numbers in the same test.
Is my data safe?
Yes. All data is protected under ISO 27001, HIPAA, and GDPR standards. Never shared with insurance companies, employers, or third parties without your consent.
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🧬 Clinical Genomics · Rare Disease
₹6,000
  • SMN1 deletion/duplication detection
  • SMN2 copy number analysis
  • MLPA technology — gold standard
  • Carrier / Affected / Clear status
  • NABL & CAP accredited lab
  • Family planning guidance included
Quantity
1
Secure checkout · SSL encrypted
Free pan-India shipping
Results in 3–4 weeks
Data never shared with insurers
NABL & CAP accredited
Genomic Expert Consultation — Available
After results, our Genomic Expert guides family planning and connects you with neurology specialists for management if SMA is confirmed.
Appointment link sent via email after order confirmation.
NABL & CAP

Accredited lab

MLPA Technology

Gold standard

SMN1 + SMN2

Both genes analyzed

ISO 27001

Data security

100% Private

GDPR compliant

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