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LTBP2 Gene Weill-Marchesani syndrome type 3 NGS Genetic Test

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LTBP2 Gene Weill-Marchesani syndrome type 3 NGS Genetic Test

Short Name: LTBP2 WMS3 NGS

Also known as: WMS3 Genetic Test, LTBP2 Gene Sequencing, Weill-Marchesani Syndrome Type 3 NGS

LTBP2 Gene Weill-Marchesani syndrome type 3 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 Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Single Gene🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm a clinical diagnosis of Weill-Marchesani Syndrome Type 3 by identifying pathogenic mutations in the LTBP2 gene. It aids in genetic counseling, family planning, and early intervention to prevent complications such as glaucoma and joint problems.

Test Code
5985
CPT Code
81408
ICD Code
Q87.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically 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 fasting required. Avoid blood transfusion for 2 weeks prior. Inform your doctor about any medications.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No special precautions. You may resume normal activities immediately.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation required. However, a genetic counseling session is recommended to discuss the implications of the test.
2
During the Test:The test involves a simple blood draw or fingerstick. No pain or discomfort beyond the needle prick.
3
After the Test:You can resume normal activities. Results will be available in 3-4 weeks and will be communicated via your preferred method.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of Weill-Marchesani Syndrome Type 3 by identifying pathogenic mutations in the LTBP2 gene. It aids in genetic counseling, family planning, and early intervention to prevent complications such as glaucoma and joint problems.

How to Prepare

  • For blood sample: Use EDTA vacutainer, fill to indicated mark.
  • For FTA card: Apply one drop of blood onto the designated circle.
  • Label the sample with patient name, date, and time of collection.
  • Store at room temperature (15-30°C) until shipment.
  • Ship to lab within 24-48 hours.

Doctor's Notes

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

"Early genetic confirmation of WMS3 is crucial for proactive management of ocular and skeletal complications. This NGS test provides definitive diagnosis, enabling personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: 24-48 hours at room temperature, 7 days at 2-8°C
FTA card: Stable for months at room temperature
Extracted DNA: Stable for years at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient blood volume
  • Improperly labeled sample
  • Sample received after prolonged transit (>72 hours) without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic mutation in the LTBP2 gene was identified. If a mutation is found, it confirms the diagnosis of WMS3. If no mutation is found, it does not completely rule out WMS3, as other genes may be involved.
📊

Pathogenic variant detected

Confirms diagnosis of Weill-Marchesani Syndrome Type 3. Genetic counseling recommended for family members.

📊

Likely pathogenic variant detected

Highly suggestive of WMS3; further segregation analysis may be advised.

📊

Variant of uncertain significance (VUS)

Cannot determine clinical significance; additional testing of family members may help.

📊

No pathogenic variant detected

No mutation found in LTBP2 gene; consider other genetic causes or clinical re-evaluation.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or ophthalmologist if you or your child have symptoms like short stature, lens dislocation, glaucoma, or joint stiffness. Early diagnosis can prevent vision loss and improve quality of life.

Limitations

  • ⚠This test detects mutations only in the LTBP2 gene; other genes associated with WMS are not analyzed.
  • ⚠Variant of uncertain significance (VUS) may require further family studies.
  • ⚠NGS may not detect large deletions/duplications or deep intronic variants.
  • ⚠Test does not assess non-genetic causes of symptoms.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for variants of uncertain significance causing anxiety

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample quantity
  • ●Recent blood transfusion (within 2 weeks)
  • ●Bone marrow transplant (may cause mixed DNA)

Compare With Similar Tests

TestLTBP2 Gene Weill-Marchesani syndrome type 3 NGS Genetic TestWhole Exome Sequencing (WES)Multi-gene Panel for Connective Tissue DisordersSanger Sequencing
ComparisonLTBP2 Gene Weill-Marchesani syndrome type 3 NGS Genetic TestWES analyzes all coding regions of ~20,000 genes, while this test focuses only on LTBP2. WES is more comprehensive but costlier and may take longer.This panel includes LTBP2 and other genes like FBN1, ADAMTSL4. It may be preferred if clinical presentation is atypical.Sanger is used for targeted confirmation of a known familial mutation, but NGS is more efficient for initial diagnosis.

Frequently Asked Questions

What is the cost of the LTBP2 gene NGS test?
The test costs INR 20,000 at DNA Labs India, which includes free home sample collection.
What sample is required for this test?
Blood (2-3 ml in EDTA) or one drop of blood on an FTA card, or extracted DNA.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be done on a saliva sample?
Yes, saliva samples are acceptable if collected in an appropriate collection kit.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the LTBP2 gene, confirming the diagnosis of Weill-Marchesani Syndrome Type 3.
Is genetic counseling included?
Yes, a genetic counseling session is included to discuss the implications of the test and draw a pedigree chart.
Are there any risks associated with the test?
The test is low-risk; only minor bruising or infection at the blood draw site may occur.
Can this test detect all types of Weill-Marchesani syndrome?
No, this test specifically analyzes the LTBP2 gene for WMS3. Other types may involve different genes.
Is home sample collection available?
Yes, we offer free home sample collection across many cities in India for online bookings.
What is the turnaround time for reports?
Reports are delivered within 3 to 4 weeks from sample receipt.
Will insurance cover this test?
Insurance coverage varies; it is recommended to check with your provider. We also offer affordable self-pay 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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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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✓ 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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