Skip to main content
DNA Labs India

LTBP2 Gene Glaucoma, Primary Type 3D NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

LTBP2 Gene Glaucoma, Primary Type 3D NGS Genetic Test

Short Name: LTBP2 Gene Glaucoma NGS Test

Also known as: LTBP2 Gene Sequencing, LTBP2 Mutation Analysis, Primary Congenital Glaucoma Type 3D Genetic Testing

LTBP2 Gene Glaucoma, Primary Type 3D 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 Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages (primarily infants and children)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify disease-causing variants in the LTBP2 gene using NGS technology, confirm a clinical suspicion of primary congenital glaucoma type 3D, inform treatment and surveillance decisions, and provide reliable data for family counseling.

Test Code
3838
ICD Code
Q15.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counseling session may be completed before testing to draw a pedigree chart and explain the test's implications.

Method: Blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist collects a small blood sample in an EDTA tube, or a drop of blood is applied to an FTA card for sample collection.

Step 3

Report Delivery

You can resume normal activities immediately. The sample is sent to the laboratory for NGS analysis, and reports are shared after completion.

Timeline: Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Complete the genetic counseling session and provide the pedigree chart along with the test request form.
2
During the Test:A small blood sample is collected in an EDTA tube, or a drop of blood is placed on an FTA card. The procedure is quick and minimally invasive.
3
After the Test:You may resume normal activities immediately. The sample is processed in the laboratory, and the genetic report is provided in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the LTBP2 gene using NGS technology, confirm a clinical suspicion of primary congenital glaucoma type 3D, inform treatment and surveillance decisions, and provide reliable data for family counseling.

How to Prepare

  • No fasting is needed for this test.
  • Use an EDTA tube for blood collection and mix gently.
  • For FTA card, apply one drop of blood to the marked circles.
  • Label the tube or card with the patient name, ID, date, and time of collection.
  • Transport the sample to DNA Labs India at ambient temperature with the test request form and clinical history.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"LTBP2-related glaucoma follows autosomal recessive inheritance. Genetic counseling by an ophthalmologist and clinical geneticist is essential for affected families to understand recurrence risks and prenatal testing options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeOne drop for FTA card; blood volume as per laboratory protocol
ContainerEDTA tube / FTA card / DNA tube
Collection MethodBlood draw or FTA card blood spot

Sample Stability

Whole blood in EDTA: 24 to 48 hours at room temperature
FTA card: stable for weeks at room temperature
Extracted DNA: stable at 2 to 8°C for short periods and at -20°C for long-term storage
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample amount
  • Mislabeled or unlabeled sample
  • Sample received in the wrong container or expired collection tube

Understanding Your Results

LTBP2-related primary congenital glaucoma follows autosomal recessive inheritance. Results should be evaluated alongside eye examination findings and family pedigree.
📊

No pathogenic variant detected

No disease-causing variant identified in the LTBP2 gene. Other genetic causes should be considered if clinical suspicion remains high.

📊

Two pathogenic variants detected (homozygous or compound heterozygous)

Consistent with a molecular diagnosis of LTBP2-related primary congenital glaucoma type 3D.

📊

One pathogenic variant detected

May indicate carrier status or an undetected second variant; further testing and genetic counseling are recommended.

📊

Variant of uncertain significance

The clinical significance is unknown; additional family segregation studies or functional testing may be needed.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist immediately for any signs of raised intraocular pressure in a child. A clinical geneticist should be consulted for variant interpretation, carrier testing, and family recurrence risk assessment.

Limitations

  • ⚠This test evaluates only the LTBP2 gene; mutations in other genes causing glaucoma will not be detected.
  • ⚠NGS may not detect all types of variants such as large deletions/duplications, deep intronic variants, or complex structural rearrangements.
  • ⚠A variant of uncertain significance may require further testing and family studies.
  • ⚠A negative result does not exclude all genetic or non-genetic causes of glaucoma.

Risks & Considerations

  • ●Minimal risk of slight pain or bruising at the blood collection site
  • ●FTA card blood spot involves no venipuncture risk
  • ●No radiation or contrast exposure

Interfering Factors

  • ●Degraded or contaminated DNA sample
  • ●Maternal cell contamination in certain sample types
  • ●Incorrect clinical history or family pedigree information
  • ●Sample mix-up or mislabeling

Compare With Similar Tests

TestLTBP2 Gene Glaucoma, Primary Type 3D NGS Genetic Test
ComparisonLTBP2 Gene Glaucoma, Primary Type 3D NGS Genetic Test

Frequently Asked Questions

What is the LTBP2 gene glaucoma primary type 3D NGS genetic test?
It is a next-generation sequencing test that analyzes the LTBP2 gene to identify mutations linked to primary congenital glaucoma type 3D, a rare inherited eye disorder seen in infants and children.
How much does the LTBP2 NGS genetic test cost in India?
The test costs INR 20,000 at DNA Labs India. The price includes genetic counseling, clinical interpretation, and sharing of raw data files (FASTQ, VCF) along with the report.
Who should get this LTBP2 gene test?
It is recommended for children with suspected primary congenital glaucoma, families with a history of LTBP2-related glaucoma, and parents seeking reproductive risk information after genetic counseling.
What sample is needed and is fasting required?
Whole blood in EDTA, extracted DNA, or one drop of blood on an FTA card is accepted. No fasting is required.
How long does it take to get results?
The reports are released in 3 to 4 weeks after sample collection.
Why is NGS technology used for this test?
NGS can sequence the entire LTBP2 coding region and exon-intron boundaries in a single assay, allowing detection of point mutations and small insertions/deletions with high accuracy.
What do positive or negative results mean?
A positive result means a disease-causing LTBP2 variant has been identified; a negative result means no such variant was found in LTBP2. It does not exclude all genetic causes of glaucoma.
Is this test useful for family planning?
Yes, when both parents are carriers or affected, the couple can use the test information during genetic counseling to understand the recurrence risk for primary congenital glaucoma.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India shares raw data, FASTQ files, VCF files, and the clinical report to ensure transparency and allow independent review.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India.
Are there any risks from the test?
The test only requires a blood draw or FTA card spot; the risk is minimal and limited to slight bruising or discomfort at the collection site.
How should the LTBP2 report be used?
The report should be discussed with an ophthalmologist and a clinical geneticist for management, surveillance, and genetic counseling of at-risk family members.
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.

Related Tests

Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test

₹25,000

Nx Gen Sequencing: Glaucoma Test

₹28,665

Nx Gen Sequencing: Corneal Dystrophy Test

₹28,665

Nx Gen Sequencing: Leber Congenital Amaurosis Test

₹28,665

Nx Gen Sequencing: Optic Atrophy Test

₹28,665

GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.