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COL11A1 Gene Marshall syndrome NGS Genetic Test

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COL11A1 Gene Marshall syndrome NGS Genetic Test

Short Name: COL11A1 Marshall Syndrome NGS Test

COL11A1 Gene Marshall syndrome 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To confirm a diagnosis of Marshall syndrome by identifying pathogenic mutations in the COL11A1 gene, identify carriers, and provide information for genetic counseling and personalized treatment plans.

Test Code
2347
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. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or FTA Card Collection

Step 2

Laboratory Analysis

A small blood sample is drawn via venipuncture or a saliva sample is collected using a kit.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store samples as directed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree.
2
During the Test:Sample collection via blood draw or saliva; procedure is quick and non-invasive.
3
After the Test:Wait for results; follow-up with healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

To confirm a diagnosis of Marshall syndrome by identifying pathogenic mutations in the COL11A1 gene, identify carriers, and provide information for genetic counseling and personalized treatment plans.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This NGS test is crucial for accurate diagnosis and management of Marshall syndrome, guiding treatment plans and genetic counseling for patients and families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card Collection

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improper labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COL11A1 gene. Positive results confirm Marshall syndrome, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms Marshall syndrome diagnosis; genetic counseling and management advised.

📊

No pathogenic variant detected

Marshall syndrome unlikely; consider other diagnoses or repeat testing if symptoms persist.

📊

Variant of uncertain significance (VUS)

Requires further evaluation and family studies; not diagnostic.

⚠️ When to Consult a Doctor:

If experiencing symptoms such as skeletal abnormalities, joint issues, or eye problems, or if there is a family history of Marshall syndrome, consult a healthcare professional for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all types of variants (e.g., large deletions/duplications)
  • ⚠Results should be interpreted alongside clinical findings
  • ⚠False negatives possible in rare cases

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●No significant risks from saliva collection

Interfering Factors

  • ●Contaminated DNA samples
  • ●Low DNA quality or quantity
  • ●Recent blood transfusions

Compare With Similar Tests

TestCOL11A1 Gene Marshall syndrome NGS Genetic TestEhlers-Danlos Syndrome Genetic TestStickler Syndrome Genetic TestCOL2A1 Gene TestComprehensive Skeletal Dysplasia Panel
ComparisonCOL11A1 Gene Marshall syndrome NGS Genetic TestTests for different connective tissue disorders; COL11A1 is specific to Marshall syndrome.Overlaps with Marshall syndrome in symptoms but may involve different genes.Tests for type II collagen disorders; relevant for similar skeletal conditions.Broader panel testing multiple genes; COL11A1 is one gene in this panel.

Frequently Asked Questions

What is Marshall syndrome?
Marshall syndrome is a rare genetic disorder affecting connective tissue, causing skeletal abnormalities due to COL11A1 gene mutations.
What causes Marshall syndrome?
It is caused by mutations in the COL11A1 gene, which provides instructions for type XI collagen essential for cartilage formation.
What is the COL11A1 gene?
The COL11A1 gene encodes a protein called type XI collagen, crucial for the development of cartilage and other connective tissues.
What is the NGS Genetic Test for COL11A1?
It is a next-generation sequencing test that identifies mutations in the COL11A1 gene to confirm Marshall syndrome diagnosis.
Who should get this test?
Individuals with symptoms like short stature, scoliosis, joint pain, facial abnormalities, or a family history of Marshall syndrome.
How is the sample collected?
A small blood sample is drawn via venipuncture or a saliva sample is collected using a simple kit.
What is the cost of the test?
The test costs INR 20,000 in India, with free home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful?
The test involves minimal discomfort, similar to a routine blood draw or saliva collection.
What do the results mean?
Positive results confirm Marshall syndrome, while negative results may indicate the condition is unlikely; genetic counseling is provided.
Can carriers be identified?
Yes, the test can identify carriers of COL11A1 mutations, important for family planning and genetic counseling.
What are the treatment options for Marshall syndrome?
Treatment is supportive, focusing on managing symptoms with therapies like physical therapy, surgery for skeletal issues, and regular monitoring.
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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