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COL6A3 Gene Ullrich congenital muscular dystrophy type 1 NGS Genetic Test

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COL6A3 Gene Ullrich congenital muscular dystrophy type 1 NGS Genetic Test

Short Name: COL6A3 UCMD1 NGS Test

Also known as: UCMD1, Ullrich CMD Type 1

COL6A3 Gene Ullrich congenital muscular dystrophy type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 Test🏠 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

To diagnose Ullrich Congenital Muscular Dystrophy Type 1 by identifying pathogenic mutations in the COL6A3 gene using Next-Generation Sequencing, aiding in clinical management, carrier testing, and genetic counseling.

Test Code
4598
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Ensure proper identification and consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation required. Genetic counseling is recommended prior to testing.
2
During the Test:Sample collection via blood draw; analysis performed in a certified laboratory using NGS technology.
3
After the Test:Results are reviewed by geneticists and delivered with a comprehensive report.

About This Test

Who Should Get This Test

To diagnose Ullrich Congenital Muscular Dystrophy Type 1 by identifying pathogenic mutations in the COL6A3 gene using Next-Generation Sequencing, aiding in clinical management, carrier testing, and genetic counseling.

How to Prepare

  • Verify patient identity
  • Use aseptic technique
  • Label sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for UCMD1 is crucial for accurate diagnosis, family counseling, and guiding management strategies to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for years if stored at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COL6A3 gene, which are associated with Ullrich Congenital Muscular Dystrophy Type 1.
Positive: Pathogenic variant detected, consistent with UCMD1 diagnosis
Negative: No pathogenic variants detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms of UCMD1 are present, for family planning with a history of the disorder, or to discuss test results and management options.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further evaluation

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestCOL6A3 Gene Ullrich congenital muscular dystrophy type 1 NGS Genetic TestMuscle BiopsyClinical Examination
ComparisonCOL6A3 Gene Ullrich congenital muscular dystrophy type 1 NGS Genetic TestInvasive procedure vs. non-invasive genetic test; genetic test provides specific mutation identificationSymptom-based assessment vs. genetic confirmation for accurate diagnosis

Frequently Asked Questions

What is Ullrich Congenital Muscular Dystrophy Type 1?
UCMD1 is a rare genetic disorder caused by mutations in the COL6A3 gene, leading to muscle weakness, joint stiffness, and respiratory issues from infancy.
What causes UCMD1?
UCMD1 is caused by mutations in the COL6A3 gene, which affects collagen VI production, essential for connective tissue and muscle function.
What are the symptoms of UCMD1?
Symptoms include progressive muscle weakness, joint contractures, respiratory problems, and delayed motor milestones, typically appearing in early childhood.
How is UCMD1 diagnosed?
Diagnosis involves genetic testing, specifically NGS to identify mutations in the COL6A3 gene, along with clinical evaluation and sometimes muscle biopsy.
What is the COL6A3 gene?
The COL6A3 gene provides instructions for making a component of collagen VI, a protein crucial for the structure and function of connective tissues in muscles and other organs.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a advanced genetic test that analyzes multiple genes simultaneously to detect mutations, providing comprehensive results for disorders like UCMD1.
What is the cost of the COL6A3 Gene UCMD1 NGS Test?
The test costs INR 20000 at DNA Labs India, which includes sample collection, analysis, and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if I have a family history of UCMD1?
Consult a genetic counselor or specialist for carrier testing and family planning advice. Genetic testing can help identify carriers and guide decisions.
Can this test be used for carrier testing?
Yes, the test can identify carriers of COL6A3 mutations, which is important for family planning and genetic counseling.
What are the treatment options for UCMD1?
There is no cure, but management includes physical therapy, respiratory support, orthopedic interventions, and regular monitoring to improve quality of life.
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.

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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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