FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test
Short Name: FBN1 NGS Test
Also known as: FBN1 Gene Mutation Test, Marfan Lipodystrophy NGS Panel, FBN1 Sequencing
FBN1 Gene Marfan lipodystrophy syndrome 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 sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Marfan lipodystrophy syndrome by detecting mutations in the FBN1 gene. It aids in differentiating this condition from other connective tissue disorders, guiding appropriate medical surveillance and treatment. Additionally, the test facilitates genetic counseling for at-risk family members and supports reproductive decision-making.
- Test Code
- 5829
- CPT Code
- 81407
- ICD Code
- Q87.4
- 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 sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A simple blood draw or saliva sample collection will be performed. For FTA card, a fingerstick blood spot is collected.
Report Delivery
No restrictions. Patients can resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Marfan lipodystrophy syndrome by detecting mutations in the FBN1 gene. It aids in differentiating this condition from other connective tissue disorders, guiding appropriate medical surveillance and treatment. Additionally, the test facilitates genetic counseling for at-risk family members and supports reproductive decision-making.
How to Prepare
- For blood sample: Use EDTA tube, mix gently to prevent clotting
- For FTA card: Apply blood spots, allow to air dry completely
- Label sample with patient ID and date of collection
- Transport at ambient temperature if processed within 24 hours, otherwise refrigerate
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of FBN1 mutations is crucial for managing cardiovascular risks and implementing surveillance protocols in Marfan lipodystrophy syndrome."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Marfan lipodystrophy syndrome. Recommend clinical surveillance and family screening.
Likely pathogenic variant detected
High likelihood of disease. Further segregation analysis may be advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing of family members may help.
No pathogenic variant detected
Does not rule out the syndrome if clinical suspicion is high. Consider other genetic causes or re-evaluation.
Consult a clinical geneticist or cardiologist if you or a family member exhibit features suggestive of Marfan lipodystrophy syndrome, such as unexplained aortic dilation, lens dislocation, or multiple skeletal anomalies. Early referral can lead to timely genetic testing and management.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variants of uncertain significance (VUS) may require further family studies
- ⚠Test does not assess non-genetic causes of similar symptoms
- ⚠Results should be interpreted in conjunction with clinical findings
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion may dilute nucleated cells
Compare With Similar Tests
| Test | FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test | FBN1 Single Gene Sequencing | Connective Tissue Disorder Panel |
|---|---|---|---|
| Comparison | FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the FBN1 gene Marfan lipodystrophy syndrome NGS genetic test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Can this test be done on children?
What does the test detect?
Is home sample collection available?
Will I need genetic counseling?
What is the turnaround time for reports?
Are there any risks associated with the test?
Can this test be used for prenatal diagnosis?
What if the test result is negative?
Related Tests
WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test
₹20,000FLNB Gene Atelosteogenesis type 3 NGS Genetic Test
₹20,000FLNB Gene Atelosteogenesis type 1 NGS Genetic Test
₹20,000EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test
₹20,000COL11A1 Gene Marshall syndrome NGS Genetic Test
₹20,000ACTN3 (Sports Gene) Genotyping Test
₹7,000Reference 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.
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.