FAT4 Gene Van Maldergem syndrome type 2 NGS Genetic Test
Short Name: FAT4 NGS Test
Also known as: FAT4 Gene Sequencing, Van Maldergem Syndrome Type 2 Genetic Test, FAT4 Mutation Analysis
FAT4 Gene Van Maldergem 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 Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the FAT4 gene that cause Van Maldergem syndrome type 2. It aids in confirming a clinical diagnosis, differentiating from other syndromes with overlapping features, and providing information for genetic counseling and family planning.
- Test Code
- 5979
- CPT Code
- 81407
- ICD Code
- Q87.8
- 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 the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a fingerstick blood drop is applied to the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the FAT4 gene that cause Van Maldergem syndrome type 2. It aids in confirming a clinical diagnosis, differentiating from other syndromes with overlapping features, and providing information for genetic counseling and family planning.
How to Prepare
- Ensure patient identity verification before collection.
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
- For FTA card, apply one drop of blood to each circle and air dry for at least 30 minutes.
- Label the sample with patient name, date, and unique identifier.
- Transport the sample to the lab within 24-48 hours; avoid extreme temperatures.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for FAT4 mutations is crucial for confirming Van Maldergem syndrome type 2, enabling early intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme heat or cold
- FTA card with insufficient blood spots
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Van Maldergem syndrome type 2. Genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of disease; further segregation analysis may be recommended.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; additional testing or family studies may be needed.
No pathogenic variants detected
No mutation found in FAT4 gene; consider other genetic causes or non-genetic etiologies.
Consult a clinical geneticist or pediatrician if you or your child has symptoms suggestive of Van Maldergem syndrome type 2, or if there is a family history of the condition. Genetic counseling is recommended before and after testing.
Limitations
- ⚠This test detects mutations only in the FAT4 gene; other genes may cause similar phenotypes.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Negative result does not exclude the possibility of a mutation in non-coding regions or other genes.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings (unrelated to the test)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete coverage of certain gene regions due to technical limitations
Compare With Similar Tests
| Test | FAT4 Gene Van Maldergem syndrome type 2 NGS Genetic Test | Whole Exome Sequencing (WES) | FAT4 Targeted Mutation Analysis | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | FAT4 Gene Van Maldergem syndrome type 2 NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this test focuses only on FAT4 gene. WES may identify mutations in other genes but is more expensive and time-consuming. | Targeted analysis screens for known specific mutations, while NGS provides comprehensive sequencing of the entire gene, detecting novel variants. | CMA detects large copy number variations but does not detect single nucleotide variants; NGS is superior for point mutations. |
Frequently Asked Questions
What is Van Maldergem syndrome type 2?
How is the FAT4 gene test performed?
What is the cost of the FAT4 gene NGS test?
Who should consider this test?
What sample is required?
How long does it take to get results?
Is fasting required before the test?
Can this test be done during pregnancy?
What does a positive result mean?
What does a negative result mean?
Is genetic counseling included?
Is home sample collection available?
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