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COL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic Test

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COL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic Test

Short Name: COL6A1 UCMD NGS Test

Also known as: COL6A1 Mutation Analysis, UCMD Genetic Test, Collagen VI Deficiency Test

COL6A1 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.

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 this test is to identify mutations in the COL6A1 gene that cause Ullrich Congenital Muscular Dystrophy, aiding in diagnosis, management, and genetic counseling.

Test Code
4595
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 required. Inform the healthcare provider about any medications, medical conditions, or previous genetic tests.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture. For FTA card, a drop of blood is applied to the card.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to understand the implications of testing and to draw a pedigree chart of family members.
2
During the Test:Sample collection and processing in the laboratory using NGS technology for comprehensive gene analysis.
3
After the Test:Report generation and delivery. Follow-up with a healthcare provider to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the COL6A1 gene that cause Ullrich Congenital Muscular Dystrophy, aiding in diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification and labeling of samples
  • Use sterile equipment and follow aseptic techniques
  • Transport samples to the laboratory at ambient room temperature

Doctor's Notes

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

"This genetic test is crucial for confirming UCMD diagnosis and guiding management strategies for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per sample type
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood sample: stable for 48 hours at room temperature
Extracted DNA: stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the COL6A1 gene associated with Ullrich Congenital Muscular Dystrophy.
Positive result: Pathogenic variant detected, confirming UCMD diagnosis. Consult a specialist for management and genetic counseling.
Negative result: No pathogenic variants detected. Consider other genetic or non-genetic causes of symptoms.
Variant of uncertain significance: Further testing, family studies, or clinical correlation may be needed for clarification.
⚠️ When to Consult a Doctor:

If symptoms of UCMD are present, such as muscle weakness or joint contractures, or if there is a family history of the disorder, consult a neurologist or geneticist for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Variants of uncertain significance may be identified, requiring further evaluation
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising, pain, or infection at the puncture site
  • ●Genetic testing may have psychological implications, including anxiety or emotional distress

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contaminated sample leading to inaccurate results
  • ●Technical errors during sequencing or analysis

Compare With Similar Tests

TestCOL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic TestMuscle BiopsyClinical Evaluation
ComparisonCOL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic Test

Frequently Asked Questions

What is the COL6A1 Gene UCMD NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the COL6A1 gene, which causes Ullrich Congenital Muscular Dystrophy, providing a definitive diagnosis.
How much does the test cost?
The test costs INR 20000, with home sample collection available across India at no additional charge.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted for testing.
Is home collection available?
Yes, free home sample collection is available for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the COL6A1 gene, confirming a diagnosis of UCMD. Consult a specialist for management.
What if the result is negative?
A negative result means no pathogenic variants were detected. Symptoms may be due to other genetic or non-genetic causes; further evaluation is recommended.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising or infection. Genetic testing may also have psychological implications.
How is the test performed?
DNA is extracted from the sample, and the COL6A1 gene is sequenced using NGS technology to identify mutations.
Who should consider this test?
Individuals with symptoms of UCMD, such as muscle weakness or joint contractures, or those with a family history of the disorder.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before and after testing to understand implications and guide decision-making.
How accurate is the test?
The test is highly accurate for detecting mutations in the COL6A1 gene, but it may not identify all types of genetic variations.
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

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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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