SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic Test
Short Name: SCARF2 NGS Test
Also known as: VDEGS Genetic Test, SCARF2 Gene Sequencing, Van den Ende-Gupta Syndrome NGS Panel
SCARF2 Gene Van den Ende-Gupta 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 the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the SCARF2 gene that are associated with Van den Ende-Gupta syndrome. This helps confirm a clinical diagnosis, guide management, and provide accurate genetic counseling for affected families.
- Test Code
- 5974
- 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 to discuss the implications of the test. Please provide clinical history and family pedigree.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately.
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 SCARF2 gene that are associated with Van den Ende-Gupta syndrome. This helps confirm a clinical diagnosis, guide management, and provide accurate genetic counseling for affected families.
How to Prepare
- For blood sample: Use EDTA vacutainer, fill to the indicated mark, and mix gently.
- For FTA card: Apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient name, date, and unique ID.
- Transport the sample to the laboratory at ambient temperature (15-25°C) within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Van den Ende-Gupta syndrome is a rare autosomal recessive disorder. Genetic confirmation is essential for accurate prognosis and family planning. NGS provides comprehensive analysis of the SCARF2 gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of Van den Ende-Gupta syndrome. Autosomal recessive inheritance is expected. Genetic counseling is recommended for the family.
Likely pathogenic variant detected
Highly suggestive of the disease; further family segregation analysis may be helpful to confirm.
Variant of uncertain significance (VUS)
The clinical significance is unclear. Additional testing of family members or functional studies may be needed.
No pathogenic variant detected
No disease-causing mutation was found in the SCARF2 gene. Consider other genetic causes or re-evaluation of the clinical diagnosis.
If you or your child have symptoms suggestive of Van den Ende-Gupta syndrome, or if there is a family history of the condition, consult a clinical geneticist or pediatrician for a comprehensive evaluation and to discuss the appropriateness of genetic testing.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠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
- ⚠Test is not intended for carrier screening in general population
Risks & Considerations
- ●No significant physical risks are associated with blood collection.
- ●Possible bruising or discomfort at the puncture site.
- ●Psychological impact of receiving genetic results.
- ●Potential for incidental findings (unrelated to the primary condition).
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete coverage of the gene due to technical limitations
Compare With Similar Tests
| Test | SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SCARF2 gene NGS genetic test in India?
What is Van den Ende-Gupta syndrome?
How is the SCARF2 gene test performed?
What is the turnaround time for the test?
Is fasting required before the test?
What sample types are accepted?
Will I receive raw data files?
Can the test be done at home?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Which cities are covered for home sample collection?
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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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