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DNA Labs India

FBN1 Gene Ectopia Lentis, Familial NGS Genetic Test

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FBN1 Gene Ectopia Lentis, Familial NGS Genetic Test

Also known as: FBN1 Gene Mutation Analysis, Ectopia Lentis NGS Test, FBN1 Genetic Screening

FBN1 Gene Ectopia Lentis, Familial NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 TestAll Ages🏠 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

To identify pathogenic mutations in the FBN1 gene that cause ectopia lentis and related connective tissue disorders, facilitating accurate diagnosis, genetic counseling, and personalized treatment plans.

Test Code
1486
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
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or Buccal Swab

Step 2

Laboratory Analysis

Sample collection via venipuncture for blood or buccal swab for DNA extraction.

Step 3

Report Delivery

Apply pressure to the puncture site if blood drawn; avoid eating or drinking for 30 minutes if buccal swab used.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a geneticist, provide detailed clinical history, and undergo genetic counseling.
2
During the Test:Sample collection is quick and non-invasive, typically taking 10-15 minutes.
3
After the Test:Wait for results, which are delivered online, and schedule a follow-up with your specialist.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the FBN1 gene that cause ectopia lentis and related connective tissue disorders, facilitating accurate diagnosis, genetic counseling, and personalized treatment plans.

How to Prepare

  • Ensure proper identification and consent
  • Use sterile equipment for blood collection
  • For buccal swab, rub firmly inside the cheek
  • Label samples correctly

Doctor's Notes

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

"Early genetic testing for FBN1 mutations is essential for accurate diagnosis and proactive management of ectopia lentis and associated connective tissue disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FBN1 gene. Positive results suggest a genetic cause for ectopia lentis and related conditions.
📊

No mutation detected

No pathogenic variants identified; clinical symptoms may have other causes

📊

Mutation detected

Pathogenic variant found; confirms genetic diagnosis and guides management

⚠️ When to Consult a Doctor:

Consult a geneticist or ophthalmologist immediately if symptoms persist, or after a positive test result for comprehensive management and family screening.

Limitations

  • ⚠May not detect all possible mutations in the FBN1 gene
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Limited to known pathogenic variants in databases

Risks & Considerations

  • ●Minimal risk of bruising or infection from blood draw
  • ●Psychological impact of genetic results
  • ●No significant risks from buccal swab

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample collection or storage

Frequently Asked Questions

What is FBN1 Gene Ectopia Lentis?
It is a genetic disorder caused by mutations in the FBN1 gene, leading to displacement of the eye's lens and potential connective tissue issues.
What are the common symptoms?
Symptoms include blurred vision, double vision, light sensitivity, eye pain, and in some cases, joint hypermobility or aortic aneurysms.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the FBN1 gene from a blood sample or buccal swab.
What is the cost of the test?
The cost is INR 20,000, which includes home sample collection in many cities across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous Indian cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What samples are required?
The test requires a blood sample, extracted DNA, or a buccal swab for DNA extraction.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting mutations, but results should be interpreted by a genetic specialist.
Who should consider this test?
Individuals with symptoms of ectopia lentis, family history of the condition, or suspected connective tissue disorders.
Are there any risks associated with the test?
The test itself has minimal risks, primarily related to blood draw, but genetic results may have psychological implications.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes, so check with private insurers.
How should I prepare for the test?
No fasting is required. Provide clinical history and attend genetic counseling before sample collection.
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

Your Data Privacy

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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