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COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic Test

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COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic Test

Short Name: COL12A1 Gene UCMD Type 2 NGS Test

Also known as: Ullrich congenital muscular dystrophy type 2, COL12A1-related muscular dystrophy

COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, 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 diagnose Ullrich congenital muscular dystrophy type 2 by detecting pathogenic mutations in the COL12A1 gene, which encodes a protein crucial for muscle function. This helps in confirming the clinical diagnosis, guiding treatment strategies, and providing genetic counseling for affected families.

Test Code
4600
Price
₹20,000
Sample Type
Blood, 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 specific preparation is required. Provide clinical history and undergo genetic counseling as recommended.

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture, or an FTA card with a blood drop may be used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Understand the test purpose, provide informed consent, and share family medical history.
2
During the Test:The test involves a simple blood draw or sample collection, taking only a few minutes.
3
After the Test:Wait for results, which will be communicated via chosen method. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Ullrich congenital muscular dystrophy type 2 by detecting pathogenic mutations in the COL12A1 gene, which encodes a protein crucial for muscle function. This helps in confirming the clinical diagnosis, guiding treatment strategies, and providing genetic counseling for affected families.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Follow aseptic techniques during blood collection
  • Store samples at ambient room temperature if not processed immediately

Doctor's Notes

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

"Genetic testing for COL12A1 mutations is essential for diagnosing Ullrich congenital muscular dystrophy type 2, aiding in early intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card

Sample Stability

Blood samples: stable for 24-48 hours at room temperature
Extracted DNA: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples
  • Improper labeling or documentation

Understanding Your Results

Results indicate whether pathogenic mutations in the COL12A1 gene are detected. A positive result confirms the diagnosis of Ullrich congenital muscular dystrophy type 2, while a negative result may require further testing or clinical evaluation.
Positive: Pathogenic variant(s) detected, consistent with UCMD type 2
Negative: No pathogenic variants detected; consider other diagnoses
Variant of uncertain significance (VUS): Further research or family studies may be needed
⚠️ When to Consult a Doctor:

Consult a genetic specialist or neurologist if symptoms persist, for result interpretation, or for family planning advice.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic or non-genetic causes of muscular dystrophy

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or discomfort
  • ●Psychological impact of genetic results

Frequently Asked Questions

What is the COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic Test?
This test uses next-generation sequencing to analyze the COL12A1 gene for mutations causing Ullrich congenital muscular dystrophy type 2, a rare muscle disorder.
Who should consider this test?
Individuals with symptoms like muscle weakness, joint contractures, or a family history of UCMD type 2 should consider this test for diagnosis.
What is the cost of the test?
The test costs INR 20000, which includes genetic counseling and support services.
How is the sample collected?
A blood sample is collected via venipuncture, or a drop of blood on an FTA card can be used. Home collection is available in many cities.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates pathogenic mutations in COL12A1, confirming UCMD type 2. A negative result may require further evaluation.
Is the test accurate?
Yes, NGS technology provides high accuracy, but results should be interpreted by a genetic specialist.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising. Genetic counseling is provided to address psychological aspects.
Can this test be used for prenatal diagnosis?
It may be used for carrier testing or prenatal diagnosis in families with known mutations, but consult a genetic counselor for guidance.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What should I do after receiving the results?
Consult a healthcare provider or genetic specialist for interpretation, management options, and family planning advice.
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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