MLPA — SMA (Spinal Muscular Atrophy)
MLPA testing for SMN1 exon 7/8 deletion and SMN2 copy number — the diagnostic and carrier test for spinal muscular atrophy.
15+
Years Experience
500+
Tests Completed
100%
Confidentiality
99.9%
Report Accuracy
Test Type
MLPA Copy-Number Testing
Sample Required
Peripheral blood (EDTA); CVS or amniotic fluid for prenatal cases
Report Time
Typically 2–3 weeks
Report Type
Accredited Lab
Why Choose Thamel Clinic
We combine expertise, privacy, and compassion to deliver the best sexual health care in Nepal.
Expert Medical Care
15+ years of specialized experience in sexual health and STD treatment.
Complete Confidentiality
100% private consultations with no record sharing without consent.
Modern Treatment
Latest CDC and WHO guidelines for evidence-based, effective care.
Compassionate Approach
Understanding, non-judgmental care in a comfortable environment.
Your Journey to Better Health
Simple, fast, and completely confidential — from booking to results.
Book Your Test
Schedule online or via WhatsApp for a same-day appointment at our clinic.
Confidential Sample Collection
Our trained professional collects your sample discreetly with no questions asked.
Receive Your Results
Get your accurate, confidential results via phone or secure online access.
STD/STI Specialist Services
STD/STI Testing & Treatment
"Thamel Clinic provides confidential STD/STI consultation, testing and treatment through qualified healthcare professionals in Thamel, Kathmandu. Services include confidential testing, evidence-based treatment, and prevention counseling."
What Our Patients Say
Real experiences from real patients who trusted us with their care.
“I was really nervous about getting tested, but STD Specialist and his team were so professional and made me feel comfortable. The whole process was confidential and quick. Highly recommended for anyone in Kathmandu." - S.K.
Review from a happy patient
“Being a traveler in Nepal, I was worried about finding a reliable clinic. Thamel Clinic was a lifesaver. They were professional, spoke English perfectly, and I got my results quickly. It's a great service for tourists in Thamel." - Alex P.
A tourist's experience at the clinic
“The home sample collection is an amazing service. It's so private and convenient. The staff who came to my home was very professional. It saved me a lot of time and worry." - R. Sharma
Feedback on the home collection service
Frequently Asked Questions
Book Your MLPA — SMA (Spinal Muscular Atrophy) Test Today
Get fast, accurate, and completely confidential MLPA — SMA (Spinal Muscular Atrophy) testing at Nepal's leading sexual health clinic in Kathmandu.
MLPA testing for SMN1 exon 7/8 deletion and SMN2 copy number — the diagnostic and carrier test for spinal muscular atrophy.
MLPA analysis of the SMN1 and SMN2 genes detects the homozygous SMN1 deletion responsible for ~95% of spinal muscular atrophy cases, quantifies SMN2 copies (which influence severity), and identifies carriers.
- SMN1 exon 7/8 deletion
- SMA diagnosis
- SMA carrier status
- SMN2 copy number
Who may need this test
Infants with hypotonia or suspected SMA, couples undergoing carrier screening (SMA is in all expanded panels), and families with an SMA history.
Common clinical use
Confirms SMA diagnosis in hypotonic infants, determines carrier status in couples (carrier frequency ~1 in 40–50), and supports prenatal diagnosis and treatment planning.
Sample
Peripheral blood (EDTA); CVS or amniotic fluid for prenatal cases
Preparation
No fasting required.
Typical turnaround
Typically 2–3 weeks
Why is this test important?
- Provides clear diagnostic information for an accurate diagnosis.
- Enables targeted and effective treatment plans.
- Helps in preventing the transmission of infections to partners.
- Offers peace of mind and clarity about your personal health status.
"Accurate testing is the cornerstone of effective sexual healthcare. We ensure every test is performed to the highest standard."
The Process at Our Clinic
Getting tested at Thamel Clinic is a simple and discreet process. After a confidential consultation where your doctor will note your clinical history, a sample (such as blood, urine, or a swab) will be collected by a trained professional. Your sample is then processed by our ISO-certified lab partners to ensure the highest accuracy. We handle your health information with the utmost care and confidentiality.
Test Type
MLPA Copy-Number Testing
Sample Required
Peripheral blood (EDTA); CVS or amniotic fluid for prenatal cases
Report Time
Typically 2–3 weeks
Report Type
ISO Certified
Confidentiality
100% Private