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FBN1 Gene Geleophysic dysplasia type 2 NGS Genetic Test

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FBN1 Gene Geleophysic dysplasia type 2 NGS Genetic Test

Short Name: FBN1 Geleophysic Dysplasia Type 2 Test

Also known as: Geleophysic dysplasia type 2, FBN1-related disorder

FBN1 Gene Geleophysic dysplasia type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

PediatricsPediatric🏠 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

The purpose of this test is to diagnose Geleophysic dysplasia type 2 by detecting mutations in the FBN1 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
2739
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 (Next-Generation Sequencing)
Step 1

Sample Collection

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

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected by trained phlebotomist via venipuncture or blood drop on FTA card.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient conditions for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the implications of testing and to obtain informed consent.
2
During the Test:DNA is extracted from the sample and sequenced using NGS to identify mutations in the FBN1 gene.
3
After the Test:A detailed report is generated, and genetic counseling is provided to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Geleophysic dysplasia type 2 by detecting mutations in the FBN1 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Avoid hemolysis during blood collection
  • Use sterile equipment

Doctor's Notes

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

"Early genetic testing for FBN1 mutations can aid in timely diagnosis and management of Geleophysic dysplasia type 2, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: stable for years when stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or degraded sample
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of mutations in the FBN1 gene associated with Geleophysic dysplasia type 2.
📊

Pathogenic mutation detected

Consistent with diagnosis of Geleophysic dysplasia type 2; genetic counseling recommended.

📊

No pathogenic mutation detected

Unlikely affected, but clinical correlation is advised; consider other genetic tests if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms of Geleophysic dysplasia type 2 are present or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestFBN1 Gene Geleophysic dysplasia type 2 NGS Genetic Test
ComparisonFBN1 Gene Geleophysic dysplasia type 2 NGS Genetic Test

Frequently Asked Questions

What is Geleophysic dysplasia type 2?
It is a rare genetic disorder caused by mutations in the FBN1 gene, affecting bone and connective tissue development.
What causes Geleophysic dysplasia type 2?
Mutations in the FBN1 gene disrupt fibrillin-1 protein function, leading to the condition.
What are the symptoms of Geleophysic dysplasia type 2?
Symptoms include short stature, abnormal bone development, joint stiffness, thickened skin, heart valve abnormalities, breathing difficulties, and delayed development.
How is Geleophysic dysplasia type 2 diagnosed?
Diagnosis is through genetic testing, such as the FBN1 Gene NGS Genetic Test, to identify mutations in the FBN1 gene.
What is the cost of the FBN1 Gene Geleophysic Dysplasia Type 2 NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, including sample collection, testing, and report.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations in the FBN1 gene, but results should be interpreted by a genetic counselor.
Who should consider getting this genetic test?
Individuals with symptoms of Geleophysic dysplasia type 2 or a family history of the disorder should consider testing.
What if the test results are positive?
A positive result confirms the diagnosis, and genetic counseling will guide management and family planning.
Is genetic counseling provided with the test?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
Are there any risks associated with the genetic test?
Risks are minimal, primarily related to blood draw, but psychological impact of results should be considered.
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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