FBN1 Gene Weill-Marchesani syndrome, dominant type 2 NGS Genetic Test
Short Name: FBN1 WMS NGS
Also known as: WMS Dominant Type 2 Genetic Test, FBN1 Gene Sequencing, Weill-Marchesani Syndrome NGS Panel
FBN1 Gene Weill-Marchesani syndrome, dominant type 2 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 available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Weill-Marchesani syndrome, dominant type 2, by identifying pathogenic variants in the FBN1 gene. It aids in differentiating WMS from other connective tissue disorders, enables carrier testing, and provides information for reproductive planning and family counseling.
- Test Code
- 5986
- 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 available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Weill-Marchesani syndrome, dominant type 2, by identifying pathogenic variants in the FBN1 gene. It aids in differentiating WMS from other connective tissue disorders, enables carrier testing, and provides information for reproductive planning and family counseling.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood collection, use an EDTA tube and mix gently.
- For FTA card, apply one drop of blood onto the designated circle and air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Weill-Marchesani syndrome is a rare connective tissue disorder. Genetic confirmation via NGS is essential for accurate diagnosis and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive (Pathogenic/Likely Pathogenic variant)
Confirms the diagnosis of Weill-Marchesani syndrome, dominant type 2. Genetic counseling and family screening are recommended.
Negative (No pathogenic variant)
Does not rule out WMS; other genetic causes may be considered. Clinical correlation is essential.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further testing of family members may help clarify.
Consult a clinical geneticist or your referring physician if you have symptoms suggestive of WMS, a family history of the condition, or if you have received a positive or uncertain genetic test result.
Limitations
- ⚠This test only analyzes the FBN1 gene and does not rule out other genetic causes of WMS-like phenotypes.
- ⚠Variant of uncertain significance (VUS) may be reported; additional family studies may be needed.
- ⚠Regulatory regions and deep intronic variants may not be fully covered.
- ⚠Not intended for prenatal diagnosis without prior genetic counseling.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaicism may lead to false negative results
Compare With Similar Tests
| Test | FBN1 Gene Weill-Marchesani syndrome, dominant type 2 NGS Genetic Test | FBN1 Gene Sequencing (Sanger) | Multigene Panel for Connective Tissue Disorders | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | FBN1 Gene Weill-Marchesani syndrome, dominant type 2 NGS Genetic Test | Sanger sequencing is targeted to specific exons, whereas NGS covers the entire gene. NGS is more efficient for large genes and multiple samples. | A panel includes multiple genes (e.g., FBN1, TGFBR1/2) and may be more cost-effective if the phenotype is not specific. | WES analyzes all coding regions and may identify variants in other genes, but is more expensive and may have incidental findings. |
Frequently Asked Questions
What is Weill-Marchesani syndrome?
What causes dominant type 2 WMS?
What is the cost of the FBN1 gene NGS test in India?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Can this test be used for prenatal diagnosis?
Is home sample collection available?
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