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COL15A1 Gene Early Onset Glaucoma, Phenotype Modifier of, COL15A1 Related NGS Genetic Test

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COL15A1 Gene Early Onset Glaucoma, Phenotype Modifier of, COL15A1 Related NGS Genetic Test

Short Name: COL15A1 NGS Genetic Test

Also known as: COL15A1 Gene Test, Early Onset Glaucoma Genetic Test, Phenotype Modifier COL15A1 Test, Glaucoma NGS Test

COL15A1 Gene Early Onset Glaucoma, Phenotype Modifier of, COL15A1 Related 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 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify pathogenic mutations in the COL15A1 gene that may modify the phenotype of early onset glaucoma, aiding in risk assessment, genetic counseling, and personalized treatment planning.

Test Code
1481
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Ensure proper identification and documentation of patient details. A genetic counseling session is recommended to discuss family history and draw a pedigree chart.

Method: Blood/Saliva Collection

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture by a trained phlebotomist. Alternatively, saliva or blood on FTA card can be used based on protocol.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store the sample as per guidelines and transport to the laboratory promptly.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to assess family history and draw a pedigree chart. No fasting required.
2
During the Test:Sample collection (blood/saliva) is performed at home or a clinic. The process is non-invasive and quick.
3
After the Test:Wait for the report delivery within 3-4 weeks. Results will be shared via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the COL15A1 gene that may modify the phenotype of early onset glaucoma, aiding in risk assessment, genetic counseling, and personalized treatment planning.

How to Prepare

  • Use sterile equipment and follow aseptic techniques.
  • Label samples accurately with patient information.
  • For blood on FTA card, ensure proper spotting and drying.
  • Maintain sample at ambient temperature during transport unless specified otherwise.

Doctor's Notes

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

"Early genetic testing for COL15A1 mutations can aid in risk stratification and personalized management of early onset glaucoma, potentially preventing vision loss."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood/Saliva Collection

Sample Stability

Blood sample stable for 48 hours at 2-8°C if not processed immediately.
Extracted DNA stable for long-term storage at -20°C.
FTA card samples stable at room temperature for several weeks.
Sample Rejection Criteria:
  • Hemolyzed or lipemic blood samples
  • Insufficient sample volume
  • Incorrect labeling or documentation
  • Sample contamination or degradation

Understanding Your Results

Results from the COL15A1 Gene NGS Genetic Test indicate the presence or absence of pathogenic variants in the COL15A1 gene. Positive results suggest an increased genetic risk for early onset glaucoma due to phenotype modification, while negative results show no detected mutations. Interpretation should be done in conjunction with clinical findings and family history.
📊

Positive for pathogenic COL15A1 variants

Increased risk of early onset glaucoma modification. Recommend ophthalmological monitoring, lifestyle modifications, and genetic counseling.

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Negative for pathogenic variants

No detected mutations in COL15A1. However, glaucoma risk may still exist due to other genetic or environmental factors. Continue regular eye check-ups.

📊

Variant of uncertain significance (VUS)

Genetic variant found with unclear clinical impact. Further research or family studies may be needed. Consult with a genetic specialist.

⚠️ When to Consult a Doctor:

If you experience symptoms like blurred vision, eye pain, or halos around lights, or if you have a family history of early onset glaucoma. Also, consult after receiving test results for personalized management.

Limitations

  • This test may not detect all genetic variants due to technical limitations of NGS.
  • Results require clinical correlation and are not solely diagnostic for glaucoma.
  • Genetic variants of uncertain significance may be identified, necessitating further analysis.

Risks & Considerations

  • Minimal physical risks from blood draw, such as bruising or infection.
  • Potential emotional impact from genetic results, including anxiety or stress.
  • Risk of misinterpretation without proper genetic counseling.

Interfering Factors

  • Sample contamination during collection or transport
  • Improper storage conditions affecting DNA integrity
  • Presence of inhibitors in the sample affecting NGS sequencing

Frequently Asked Questions

What is the COL15A1 Gene Early Onset Glaucoma Genetic Test?
It is an NGS-based genetic test that identifies mutations in the COL15A1 gene, which acts as a phenotype modifier for early onset glaucoma, helping assess genetic risk.
Who should consider this test?
Individuals with a family history of early onset glaucoma, symptoms like blurred vision or eye pain, or those recommended by an ophthalmologist or genetic counselor.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for testing.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt at the laboratory.
What is the cost of the test?
The test costs INR 20000.0, with home sample collection available at no additional charge.
Is the test painful?
The sample collection involves a simple blood draw or saliva collection, which is minimally invasive and generally painless.
What does a positive result mean?
A positive result indicates the presence of pathogenic COL15A1 variants, suggesting an increased risk for early onset glaucoma modification. It does not confirm glaucoma diagnosis but warrants monitoring.
Can this test diagnose glaucoma?
No, this test identifies genetic risk factors. Glaucoma diagnosis requires comprehensive eye examinations including intraocular pressure measurement and optic nerve assessment.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before testing to discuss family history, implications of results, and draw a pedigree chart.
How accurate is the test?
The test uses advanced NGS technology for high accuracy in detecting genetic variants, but limitations exist. Results should be interpreted by a qualified professional.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
What should I do after receiving the results?
Consult with a healthcare provider or genetic counselor to understand the results and discuss appropriate management, monitoring, or treatment options.
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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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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