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FLNA Gene Terminal osseous dysplasis NGS Genetic Test

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FLNA Gene Terminal osseous dysplasis NGS Genetic Test

Short Name: FLNA TOD NGS Genetic Test

Also known as: Terminal Osseous Dysplasia Genetic Test, FLNA Gene Mutation Test

FLNA Gene Terminal osseous dysplasis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood, Extracted DNA, FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 diagnose Terminal Osseous Dysplasia by identifying mutations in the FLNA gene using NGS technology.

Test Code
5149
Price
₹20,000
Sample Type
Blood, Extracted DNA, FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history and genetic counseling session recommended to assess indications and obtain informed consent.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample drawn by a trained phlebotomist using standard venipuncture or finger prick for FTA card.

Step 3

Report Delivery

Sample is labeled, stored at ambient temperature, and sent to the laboratory for processing.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, obtain informed consent, and draw a pedigree chart of family history.
2
During the Test:Sample collection via blood draw or FTA card, followed by NGS analysis in the laboratory.
3
After the Test:Report generation within 3-4 weeks, with delivery via online portal, email, or WhatsApp. Post-test counseling available.

About This Test

Who Should Get This Test

To diagnose Terminal Osseous Dysplasia by identifying mutations in the FLNA gene using NGS technology.

How to Prepare

  • Fasting not required
  • Avoid hemolysis during blood draw
  • Ensure proper labeling of sample
  • Use provided FTA card for one-drop blood if applicable

Doctor's Notes

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

"Genetic testing for TOD is crucial for accurate diagnosis and family planning. Early detection can guide management and counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, FTA Card
Sample VolumeVaries
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: stable for up to 7 days at 2-8°C
FTA card: stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or documentation
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FLNA gene associated with Terminal Osseous Dysplasia.
📊

Pathogenic variant detected

Confirms diagnosis of Terminal Osseous Dysplasia. Genetic counseling recommended for management and family planning.

📊

No pathogenic variant detected

TOD is unlikely based on genetic analysis, but clinical correlation is advised. Consider other diagnoses if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

If symptoms of TOD are present, for family planning advice after test results, or if a variant of uncertain significance is identified.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of test results, requiring genetic counseling

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is Terminal Osseous Dysplasia (TOD)?
TOD is a rare genetic disorder that affects bone and cartilage development, leading to symptoms like short stature and skeletal abnormalities.
What causes TOD?
TOD is caused by mutations in the FLNA gene, which encodes the filamin A protein involved in cytoskeleton formation.
How is TOD diagnosed?
TOD is diagnosed through genetic testing, specifically Next-Generation Sequencing (NGS) of the FLNA gene to identify mutations.
What is the FLNA gene?
The FLNA gene provides instructions for making filamin A, a protein essential for cell structure and bone development.
What does the NGS test involve?
The NGS test involves high-throughput DNA sequencing of the entire FLNA gene to detect mutations associated with TOD.
What is the cost of the FLNA Gene TOD NGS Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home 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 get results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should get tested for TOD?
Individuals with symptoms of TOD, a family history of the disorder, or those seeking genetic counseling for family planning.
Can the test detect carriers of FLNA mutations?
Yes, the test can identify individuals who carry FLNA gene mutations but may not show symptoms, important for family planning.
What are the symptoms of TOD?
Symptoms include short stature, malformed fingers and toes, and various skeletal abnormalities, varying in severity.
How accurate is the FLNA Gene TOD NGS Test?
The test uses advanced NGS technology for high accuracy in detecting mutations, but genetic counseling is recommended for interpretation.
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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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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