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CAPN1 Gene Muscular-skeletal disorder, CAPN1 related NGS Genetic Test

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CAPN1 Gene Muscular-skeletal disorder, CAPN1 related NGS Genetic Test

Short Name: CAPN1 NGS Test

Also known as: CAPN1 gene test, Calpain-1 mutation analysis, LGMD2A genetic test

CAPN1 Gene Muscular-skeletal disorder, CAPN1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect mutations in the CAPN1 gene associated with muscular-skeletal disorders, confirming diagnosis and enabling appropriate management.

Test Code
4368
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Patient should carry any previous investigation reports and referral note. Genetic counselling before testing is recommended.

Method: Venipuncture or finger-prick or saliva collection

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist. FTA card finger-prick is also accepted for DNA collection. No special precautions during collection.

Step 3

Report Delivery

No restrictions are necessary. Patient can resume daily activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation is needed. Attend a genetic counselling session to draw a pedigree chart of affected family members.
2
During the Test:A simple blood or saliva sample is collected. The procedure is painless for most individuals.
3
After the Test:You can return to your normal activities. Results will be shared within 3 to 4 weeks.

About This Test

Who Should Get This Test

To detect mutations in the CAPN1 gene associated with muscular-skeletal disorders, confirming diagnosis and enabling appropriate management.

How to Prepare

  • Confirm patient identity and order details
  • Clean the site with antiseptic before venipuncture or finger-prick
  • For FTA card, apply one drop of blood to the designated circle
  • Label the sample tube/card with patient name and date
  • Ensure sample is shipped to the lab within 24 hours

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"As a referring specialist, I recommend genetic counselling and NGS testing for patients with limb-girdle weakness to achieve an accurate diagnosis and guide management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeRequired volume as per collection method
ContainerEDTA vacutainer, FTA card, or saliva collection kit
Collection MethodVenipuncture or finger-prick or saliva collection

Sample Stability

EDTA blood: 3 days at 2-8°C
FTA card: 6 months at room temperature
Extracted DNA: 1 year at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Mislabeled or unlabeled sample
  • Insufficient blood volume
  • Use of incorrect anticoagulant container

Understanding Your Results

The result is interpreted by a clinical geneticist. Detection of a pathogenic variant confirms the diagnosis and helps guide clinical management, treatment decisions, and genetic counselling for the patient and family.
Pathogenic variant identified – confirms the diagnosis
No pathogenic variant detected – does not exclude the disorder if clinical suspicion is strong
Variant of uncertain significance (VUS) – requires further segregation analysis and clinical correlation
⚠️ When to Consult a Doctor:

If the result is positive, consult a clinical geneticist or neurologist for management planning. If negative but symptoms persist, discuss other diagnostic options with your physician.

Limitations

  • ⚠This test is intended for diagnostic confirmation and may not detect all mutation types
  • ⚠Large deletions, duplications, and trinucleotide repeat expansions may require additional testing
  • ⚠Variants of uncertain clinical significance (VUS) may be reported and require further family studies
  • ⚠Negative result does not rule out the condition if clinical suspicion is high

Risks & Considerations

  • ●No significant risks; minor pain or bruising at the blood draw site

Interfering Factors

  • ●Contaminated or degraded DNA may affect test accuracy
  • ●Long-term storage of sample can reduce DNA quality
  • ●Low sample volume or insufficient DNA concentration
  • ●Certain complex mutations (large deletions/duplications) may not be detected by NGS alone

Frequently Asked Questions

What is the CAPN1 gene?
The CAPN1 gene provides instructions for making calpain-1, a protein essential for normal muscle and skeletal function. Mutations in this gene can cause muscular-skeletal disorders.
Which disorders are associated with CAPN1 mutations?
CAPN1 mutations are associated with limb-girdle muscular dystrophy type 2A (LGMD2A), spondyloepiphyseal dysplasia (SED), and Ehlers-Danlos syndrome (EDS).
What are the common symptoms of CAPN1-related disorders?
Common symptoms include muscle weakness, joint pain and stiffness, scoliosis, difficulty walking or standing, breathing problems, and loose or unstable joints.
How is CAPN1-related muscular-skeletal disorder diagnosed?
The diagnosis is confirmed through genetic testing using next-generation sequencing (NGS) to detect mutations in the CAPN1 gene.
What sample do I need to provide?
You can provide blood, saliva, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required for this genetic test.
What is the cost of the CAPN1 NGS genetic test?
The test costs INR 20,000.
How long will the report take?
The report is available within 3 to 4 weeks after the sample is received in the laboratory.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in major cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, and more.
What does a positive CAPN1 test result mean?
A positive result means a pathogenic variant in the CAPN1 gene was identified, confirming the diagnosis of a CAPN1-related muscular-skeletal disorder.
What does a negative result indicate?
A negative result means no pathogenic variant was detected. However, it does not completely rule out the condition if clinical suspicion is high; further testing may be needed.
Why is genetic counselling important before the test?
Genetic counselling helps you understand the implications of the test, interpret results, assess inheritance patterns, and make informed decisions for yourself and family members.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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