FAT4 Gene Hennekam lymphangiectasia-lymphedema syndrome type 2 NGS Genetic Test
Short Name: FAT4 Hennekam Syndrome Type 2 NGS Test
Also known as: Hennekam syndrome type 2, FAT4-related lymphangiectasia-lymphedema syndrome
FAT4 Gene Hennekam lymphangiectasia-lymphedema syndrome type 2 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the FAT4 gene to confirm a diagnosis of Hennekam lymphangiectasia-lymphedema syndrome type 2, enabling appropriate medical management and genetic counseling for affected individuals and families.
- Test Code
- 5759
- 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)
Sample Collection
Genetic counseling session recommended to discuss family history and test implications.
Method: Venipuncture or finger prick
Laboratory Analysis
Standard blood draw procedure using venipuncture or finger prick for FTA card.
Report Delivery
Sample is labeled and sent to the laboratory for DNA extraction and NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the FAT4 gene to confirm a diagnosis of Hennekam lymphangiectasia-lymphedema syndrome type 2, enabling appropriate medical management and genetic counseling for affected individuals and families.
How to Prepare
- Ensure proper sample labeling with patient details
- Avoid hemolysis by gentle handling
- Use appropriate container (EDTA tube or FTA card)
- Store at ambient room temperature if not processed immediately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for early diagnosis and management of Hennekam syndrome, especially in families with a history of lymphatic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling or container
Understanding Your Results
Positive for pathogenic variant
Mutation detected, consistent with diagnosis of Hennekam syndrome type 2. Genetic counseling and clinical management recommended.
Negative for pathogenic variant
No mutation detected in the FAT4 gene. Clinical correlation and further testing may be needed if symptoms persist.
Variant of uncertain significance
A genetic variant was found but its clinical significance is unknown. Additional family studies or functional assays may be required.
Likely benign variant
Variant detected but unlikely to cause disease. Monitor for symptoms and consider genetic counseling.
Copy number variation detected
Deletion or duplication in the FAT4 gene identified, which may contribute to the syndrome. Further evaluation is advised.
Consult a geneticist or healthcare provider if symptoms such as limb swelling, developmental delays, or lymphatic abnormalities are present, or if genetic test results are positive or uncertain.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results
- ●Potential for uncertain findings requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | FAT4 Gene Hennekam lymphangiectasia-lymphedema syndrome type 2 NGS Genetic Test | FAT4 Gene Sanger Sequencing | Whole Exome Sequencing | Lymphangiectasia Gene Panel | Chromosomal Microarray |
|---|---|---|---|---|---|
| Comparison | FAT4 Gene Hennekam lymphangiectasia-lymphedema syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is Hennekam lymphangiectasia-lymphedema syndrome type 2?
What does the FAT4 Gene NGS Genetic Test involve?
How much does the test cost at DNA Labs India?
Who should consider this test?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
What do positive results mean?
Can the test detect all mutations?
Is genetic counseling provided?
Is home sample collection available?
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₹20,000Reference 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.
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