SPINAL MUSCULAR ATROPHY (SMA) Test – Fast & Accurate Genetic Screening

Description

SPINAL MUSCULAR ATROPHY (SMA) Genetic Test – Early Detection for a Healthier Future

The Spinal Muscular Atrophy (SMA) Genetic Test is a highly accurate molecular diagnostic test that detects mutations — most commonly deletions in the SMN1 (Survival Motor Neuron 1) gene — responsible for Spinal Muscular Atrophy, a severe autosomal recessive neuromuscular disorder.

SMA leads to progressive muscle weakness, loss of motor function, and in severe cases, respiratory failure, particularly in infants and young children. However, early detection through genetic testing enables timely intervention with life-changing therapies like nusinersen (Spinraza®), onasemnogene abeparvovec (Zolgensma®), or risdiplam (Evrysdi®).

Offered at Lab Tests Dubai, this test uses advanced PCR and MLPA technologies to analyze DNA from blood or saliva, delivering reliable results that support:

• Newborn screening
• Carrier testing for couples planning pregnancy
• Diagnosis in symptomatic individuals
• Family planning decisions

Knowledge is power — and when it comes to SMA, early action can change everything.

Why You Need This Test

You need the SMA Genetic Test if:

• You’re planning a family and want to check carrier status
• There’s a family history of SMA
• Your child shows signs of delayed milestones, weak cry, poor feeding, or muscle weakness
• You’ve had an abnormal prenatal screening result
• You’re undergoing IVF with preimplantation genetic testing (PGT-M)
• You’re a close relative of a known carrier

This test helps determine whether you or your baby carries one or two faulty copies of the SMN1 gene — critical information for diagnosis and prevention.

Symptoms That Indicate This Test

In babies and children:

• Delayed sitting, crawling, or walking
• Floppy limbs or low muscle tone (hypotonia)
• Weakness in arms and legs
• Difficulty sucking, swallowing, or breathing
• Tongue twitching (fasciculations)

In adults (milder forms):

• Muscle weakness, especially in shoulders and hips
• Fatigue or difficulty climbing stairs
• Hand tremors or fine motor skill decline

Even without symptoms, healthy individuals can be carriers — making this test essential before conception.

Natural Production (Clarification: SMN1 Gene & Protein)

Your body naturally produces the SMN (Survival Motor Neuron) protein — vital for the health of motor neurons that control muscle movement. This protein is made by two genes: SMN1 (primary producer) and SMN2 (backup, less efficient).

When both copies of the SMN1 gene are deleted or mutated, the body cannot produce enough functional SMN protein — leading to motor neuron degeneration and SMA.

The SMA Genetic Test identifies deletions/mutations in SMN1 and also analyzes SMN2 copy number, which helps predict disease severity and guide treatment options.

What Happens If Untreated

If SMA is not diagnosed early:

• Infants with Type 1 (most severe) may lose the ability to breathe independently within months
• Progressive muscle wasting leads to permanent disability
• Delayed access to FDA-approved gene therapies reduces effectiveness
• Families face emotional distress due to late diagnosis

However, newborn screening and early treatment have shown remarkable outcomes — including near-normal development in many cases.

How to Prepare for the Test

Preparation is simple:

• No fasting required
• Avoid mouthwash or eating/drinking 30 minutes before saliva collection
• Continue regular medications

🔹 Sample Options:

• Blood: 4 mL whole blood in lavender-top (EDTA) tube
• Saliva: Collected using an approved DNA kit (e.g., Oragene)

🔹 Shipping Requirements:

• Blood: Ship refrigerated (2–8°C)
• Saliva: Ship at room temperature
• Complete Test Request Form (TRF) and include clinical/family history

We offer home sample collection across Dubai & UAE — ensuring safe, sterile handling.

Test Overview

FAQs

Q: Can carriers show symptoms?
A: No. Carriers (one faulty copy) are healthy but can pass the mutation to their children.

Q: What are the chances of having an affected child?
A: If both parents are carriers, there’s a 25% chance per pregnancy of having a child with SMA.

Q: Is this test suitable for newborns?
A: Yes. Critical for early diagnosis and starting treatment before symptom onset.

Q: Do I need a doctor’s referral?
A: Recommended for insurance claims and follow-up care. We accept self-referrals for screening.

Q: Can this test be done during pregnancy?
A: Yes. Prenatal testing available via amniocentesis or CVS — consult your OB-GYN.

Q: Will my data be kept private?
A: Absolutely. All genetic information is encrypted and never shared without consent.

Q: What if I’m a carrier?
A: You’ll receive guidance on next steps — including partner testing, IVF+PGT, or prenatal diagnosis.

Protect Your Family’s Future Today. One test could save a life. The SMA Genetic Test gives you life-saving knowledge so you can act before symptoms appear, choose safer paths to parenthood, and give your child the best possible start. Book a test today.