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FBN2 Gene Contractural arachnodactyly, congenital NGS Genetic Test

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FBN2 Gene Contractural arachnodactyly, congenital NGS Genetic Test

Short Name: FBN2 Gene Test

Also known as: Congenital Contractural Arachnodactyly, FBN2-Related Disorder, Beals Syndrome

FBN2 Gene Contractural arachnodactyly, congenital 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To detect pathogenic mutations in the FBN2 gene that cause congenital contractural arachnodactyly, enabling accurate diagnosis, genetic counseling, risk assessment for family members, and informed medical management to prevent or mitigate complications.

Test Code
4869
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation such as fasting is required. Provide a detailed clinical history and family pedigree during genetic counseling to guide testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture by a trained phlebotomist. For FTA card collection, a single drop of blood is applied to the card.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities immediately. Store the sample as instructed before transport.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss symptoms, family history, and the implications of testing. No fasting or special preparation is required.
2
During the Test:A blood sample is collected and sent to the laboratory for NGS analysis. The process is non-invasive and typically takes a few minutes.
3
After the Test:Wait for the report delivery within 3-4 weeks. Review results with a genetic counselor or healthcare provider to understand findings and next steps.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the FBN2 gene that cause congenital contractural arachnodactyly, enabling accurate diagnosis, genetic counseling, risk assessment for family members, and informed medical management to prevent or mitigate complications.

How to Prepare

  • Ensure proper patient identification and labeling of samples
  • Use sterile collection equipment to avoid contamination
  • Follow standard phlebotomy procedures for blood draw
  • For FTA cards, allow blood to dry completely before packaging

Doctor's Notes

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

"Genetic testing for FBN2 mutations is essential for confirming diagnosis and guiding management in patients with connective tissue abnormalities, aiding in early intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood in EDTA tube: Stable for 24-48 hours at room temperature
Extracted DNA: Stable for several days at 4°C or longer at -20°C
FTA card: Stable for extended periods at room temperature if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume for analysis
  • Improperly labeled or unlabeled samples
  • Samples collected in incorrect containers

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FBN2 gene. A positive result confirms a diagnosis of FBN2-related contractural arachnodactyly, while a negative result suggests no detectable mutations, though clinical correlation is recommended. Variants of uncertain significance may require further investigation.
📊

Positive for pathogenic variant

Confirms diagnosis of congenital contractural arachnodactyly due to FBN2 mutation. Genetic counseling and management planning are advised.

📊

Negative for pathogenic variants

No disease-causing mutations detected in the FBN2 gene. Consider other genetic or non-genetic causes if symptoms persist.

📊

Variant of Uncertain Significance (VUS)

A genetic change was found, but its clinical significance is unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms such as joint contractures, skeletal abnormalities, or cardiac issues are present, or if there is a family history of similar disorders. After receiving test results, seek genetic counseling for interpretation and management guidance.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Results require interpretation by a qualified geneticist or healthcare provider
  • ⚠Does not rule out other genetic conditions with similar symptoms
  • ⚠Variant of uncertain significance (VUS) may be identified, requiring further evaluation

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as slight pain, bruising, or rare infection at the puncture site
  • ●Psychological impact of genetic results, which can be addressed through counseling

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper storage
  • ●Incorrect sample type or insufficient volume
  • ●Presence of inhibitors in the sample

Compare With Similar Tests

TestFBN2 Gene Contractural arachnodactyly, congenital NGS Genetic TestFBN1 Gene Sequencing TestComprehensive Connective Tissue PanelTGFBR1/2 Gene Test
ComparisonFBN2 Gene Contractural arachnodactyly, congenital NGS Genetic Test

Frequently Asked Questions

What is the FBN2 Gene Contractural Arachnodactyly NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the FBN2 gene, which causes congenital contractural arachnodactyly, a rare connective tissue disorder.
Who should consider taking this genetic test?
Individuals with symptoms like long fingers, joint contractures, spinal curvature, or a family history of similar disorders should consider this test for accurate diagnosis.
What are the common symptoms of FBN2 gene contractural arachnodactyly?
Symptoms include long, slender fingers and toes, bent digits, abnormal spinal curvature, joint contractures, thin skin, stretch marks, and potential heart issues like aortic aneurysms.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to identify mutations in the FBN2 gene.
What is the cost of the FBN2 Gene NGS Genetic Test in India?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic FBN2 mutation, diagnosing congenital contractural arachnodactyly and guiding management and genetic counseling.
Is this genetic test covered by insurance?
Genetic testing may not be covered by insurance; it is advisable to check with your insurance provider before undergoing testing.
Can this test be used for prenatal diagnosis?
Yes, if there is a known family mutation, prenatal testing may be possible through methods like chorionic villus sampling or amniocentesis, but consultation with a genetic specialist is required.
What are the risks associated with the test?
The risks are minimal, primarily related to blood draw, such as bruising or infection. Psychological impacts can be mitigated with genetic counseling.
How accurate is the NGS genetic test for FBN2 mutations?
NGS provides high accuracy in detecting mutations, but no test is 100% foolproof; results should be interpreted by a qualified geneticist.
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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