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COL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic Test

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COL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic Test

Short Name: COL6A2 UCMD NGS Genetic Test

Also known as: Ullrich Congenital Muscular Dystrophy, UCMD, Collagen VI-related myopathy

COL6A2 Gene Ullrich congenital muscular dystrophy 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.

Next-Generation Sequencing (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

The purpose of the COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic Test is to identify mutations in the COL6A2 gene associated with Ullrich Congenital Muscular Dystrophy. This enables accurate diagnosis, informs treatment strategies, facilitates genetic counseling for families, and supports research into collagen VI-related myopathies.

Test Code
4597
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 special preparation is required. Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with Ullrich Congenital Muscular Dystrophy.

Method: Venipuncture for blood or saliva collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or a saliva sample, ensuring minimal discomfort.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store the sample as instructed and await analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting is required.
2
During the Test:The collected sample undergoes Next-Generation Sequencing analysis in the laboratory to detect mutations in the COL6A2 gene.
3
After the Test:Results are reviewed by a geneticist, and a report is generated. Genetic counseling is recommended to discuss findings.

About This Test

Who Should Get This Test

The purpose of the COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic Test is to identify mutations in the COL6A2 gene associated with Ullrich Congenital Muscular Dystrophy. This enables accurate diagnosis, informs treatment strategies, facilitates genetic counseling for families, and supports research into collagen VI-related myopathies.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details
  • Follow standard biosafety protocols

Doctor's Notes

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

"Early genetic testing for COL6A2 mutations is crucial for managing Ullrich CMD and providing family counseling 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
Collection MethodVenipuncture for blood or saliva collection

Sample Stability

Blood samples are stable for 48 hours at room temperature
Extracted DNA can be stored at appropriate temperatures for longer periods
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Samples not stored correctly

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL6A2 gene, which are associated with Ullrich Congenital Muscular Dystrophy. Interpretation should be done by a qualified geneticist or healthcare provider.
📊

Pathogenic variant detected

Confirms a diagnosis of Ullrich Congenital Muscular Dystrophy, guiding management and genetic counseling.

📊

No pathogenic variant detected

Reduces the likelihood of UCMD due to COL6A2 mutations, but does not rule out other genetic causes or conditions.

📊

Variant of uncertain significance

Requires further evaluation and genetic counseling to determine clinical relevance.

⚠️ When to Consult a Doctor:

If symptoms such as muscle weakness, joint contractures, or breathing difficulties persist, or if there is a family history of muscular dystrophy, consult a geneticist, neurologist, or genetic counselor for evaluation and testing.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Requires interpretation by a genetic counselor or specialist
  • ⚠Not a standalone diagnostic tool for all muscular dystrophies
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Risk of misinterpretation without professional guidance

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Technical errors in sequencing
  • ●Insufficient sample volume

Compare With Similar Tests

TestCOL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic Test
ComparisonCOL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic Test

Frequently Asked Questions

What is Ullrich Congenital Muscular Dystrophy?
Ullrich Congenital Muscular Dystrophy (UCMD) is a rare genetic disorder that affects muscles and connective tissues, leading to muscle weakness, joint contractures, and respiratory issues. It is caused by mutations in genes related to collagen VI, such as COL6A2.
What is the COL6A2 gene?
The COL6A2 gene provides instructions for making a component of collagen VI, a protein essential for the structure and function of muscles and connective tissues. Mutations in this gene can lead to Ullrich Congenital Muscular Dystrophy.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the COL6A2 gene from a blood or saliva sample. It detects mutations or variants associated with UCMD, providing accurate results within 3 to 4 weeks.
What are the symptoms of Ullrich Congenital Muscular Dystrophy?
Symptoms include muscle weakness and wasting, poor muscle tone, joint contractures (stiffness), scoliosis (curvature of the spine), and breathing difficulties due to respiratory muscle involvement.
Who should get this test?
Individuals with symptoms of UCMD, a family history of collagen VI-related myopathies, or those seeking genetic counseling for affected families should consider this test. Consult a healthcare professional for guidance.
What is the cost of the test?
The COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic Test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection. Reports can be accessed online, via email, or WhatsApp.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India, making it convenient for patients.
What do the test results mean?
Results indicate whether pathogenic mutations in the COL6A2 gene are detected. A positive result confirms UCMD diagnosis, while a negative result reduces likelihood but may require further testing. Genetic counseling is recommended for interpretation.
Can this test diagnose other conditions?
This test specifically targets mutations in the COL6A2 gene associated with Ullrich Congenital Muscular Dystrophy. It may not diagnose other genetic disorders unless they involve COL6A2.
Is genetic counseling recommended?
Yes, genetic counseling is strongly recommended before and after testing to understand implications, interpret results, and provide support for family planning and management.
How accurate is the NGS test?
NGS technology is highly accurate for detecting genetic mutations, but no test is 100% foolproof. Accuracy depends on sample quality and laboratory standards. DNA Labs India ensures rigorous quality control for reliable results.
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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