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FOXC2 Gene Lymphedema-distichiasis syndrome NGS Genetic Test

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FOXC2 Gene Lymphedema-distichiasis syndrome NGS Genetic Test

Short Name: FOXC2 NGS Test

Also known as: FOXC2 Gene Mutation Test, Lymphedema-distichiasis NGS Panel, FOXC2 Sequencing

FOXC2 Gene Lymphedema-distichiasis 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.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to identify pathogenic mutations in the FOXC2 gene that cause lymphedema-distichiasis syndrome. It aids in confirming a clinical diagnosis, differentiating from other lymphedema syndromes, enabling early intervention, and providing information for family planning and genetic counseling.

Test Code
5824
CPT Code
81408
ICD Code
Q82.0
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)
Step 1

Sample Collection

No special preparation required. Inform your doctor about any medications or supplements. A genetic counseling session is recommended prior to testing.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. For FTA card, a finger-prick blood spot is collected. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You may resume normal activities immediately. The sample will be sent to the laboratory for analysis. Results are typically available in 3-4 weeks.

Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No special preparation. Genetic counseling is recommended to discuss the purpose, risks, and benefits of testing.
2
During the Test:A blood sample is collected. The procedure is quick and causes minimal discomfort.
3
After the Test:You can resume normal activities. Results will be shared via your preferred mode. A follow-up consultation is advised to discuss results.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic mutations in the FOXC2 gene that cause lymphedema-distichiasis syndrome. It aids in confirming a clinical diagnosis, differentiating from other lymphedema syndromes, enabling early intervention, and providing information for family planning and genetic counseling.

How to Prepare

  • For blood sample: Use EDTA vacutainer, fill to indicated mark, mix gently
  • For FTA card: Apply blood drops to designated circles, air dry for 30 minutes
  • Label sample with patient name, date, and unique ID
  • Transport at ambient temperature (15-30°C) within 24 hours

Doctor's Notes

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

"FOXC2-related lymphedema-distichiasis often presents with lower limb swelling and extra eyelashes. Early genetic confirmation helps guide surveillance for cardiac and venous anomalies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 FTA card spot
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA72 hours
FTA card1 year
Extracted DNA6 months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged storage without proper temperature

Understanding Your Results

The test report will indicate whether a pathogenic variant was identified in the FOXC2 gene. Results are interpreted in the context of clinical findings and family history.
📊

Positive (Pathogenic variant)

Confirms diagnosis of FOXC2-related lymphedema-distichiasis syndrome. Genetic counseling recommended for family members.

Action: Initiate management for lymphedema, cardiac screening, and ophthalmologic evaluation.

📊

Negative (No pathogenic variant)

No mutation found in FOXC2 gene. Clinical diagnosis may still be considered if symptoms are strong, but other genetic causes should be explored.

Action: Consider broader lymphedema gene panel or referral to specialist.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown. Further testing of family members may help clarify.

Action: Genetic counseling and possible segregation analysis.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if you or a family member have symptoms like unexplained limb swelling, extra eyelashes, or a known family history of lymphedema-distichiasis. Early diagnosis can improve outcomes.

Limitations

  • NGS may not detect large genomic rearrangements or deep intronic variants
  • Variant of uncertain significance (VUS) may require further family studies
  • Test does not assess non-genetic causes of lymphedema
  • Genetic counseling is essential for result interpretation

Risks & Considerations

  • Minimal risk of bruising or infection at blood draw site
  • Psychological impact of genetic results
  • Potential for incidental findings

Interfering Factors

  • Poor DNA quality or quantity
  • Contamination during sample collection
  • Presence of maternal cell contamination in prenatal samples
  • Rare genetic variants not covered by NGS (e.g., large deletions)

Compare With Similar Tests

TestFOXC2 Gene Lymphedema-distichiasis syndrome NGS Genetic TestComprehensive Lymphedema PanelSanger Sequencing for FOXC2
ComparisonFOXC2 Gene Lymphedema-distichiasis syndrome NGS Genetic Test

Frequently Asked Questions

What is FOXC2 gene lymphedema-distichiasis syndrome?
It is a rare genetic disorder caused by mutations in the FOXC2 gene, leading to lymphatic system abnormalities (lymphedema) and extra eyelashes (distichiasis).
How is the FOXC2 NGS genetic test performed?
A blood sample or FTA card blood spot is collected. DNA is extracted and next-generation sequencing is used to analyze the FOXC2 gene for mutations.
What is the cost of the FOXC2 NGS test in India?
The test costs Rs 20,000 at DNA Labs India, with free home sample collection available.
How long does it take to get results?
Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be done on children?
Yes, the test can be performed on individuals of any age, including children, with appropriate consent.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the FOXC2 gene, confirming the diagnosis of lymphedema-distichiasis syndrome.
What if the result is negative?
A negative result means no mutation was found in FOXC2. However, clinical symptoms may still warrant further genetic testing for other lymphedema genes.
Is genetic counseling included?
Yes, a pre-test genetic counseling session is included to discuss family history and implications.
Can I get a home sample collection?
Yes, DNA Labs India offers free home sample collection in over 200 cities across India.
What is the sample type required?
Blood (EDTA) or extracted DNA or one drop of blood on an FTA card.
Are there any risks associated with the test?
The test is safe with minimal risks like slight bruising at the blood draw site. Genetic results may have psychological implications, so counseling is recommended.
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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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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