EPG5 Gene Vici syndrome NGS Genetic Test
Short Name: EPG5 NGS Test
Also known as: EPG5 Gene Mutation Test, Vici Syndrome Genetic Test, EPG5 Sequencing
EPG5 Gene Vici 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 SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the EPG5 Gene Vici Syndrome NGS Genetic Test is to detect mutations in the EPG5 gene that cause Vici syndrome. This test is indicated for individuals presenting with characteristic symptoms such as developmental delay, hypotonia, cataracts, and immune deficiency, or for families with a history of the condition. Genetic confirmation helps in accurate diagnosis, prognosis, and management planning, as well as providing information for recurrence risk assessment in future pregnancies.
- Test Code
- 5977
- 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 before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. If using FTA card, a few drops of blood will be collected on the card.
Report Delivery
No specific precautions. The sample will be sent to the laboratory for analysis.
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 the EPG5 Gene Vici Syndrome NGS Genetic Test is to detect mutations in the EPG5 gene that cause Vici syndrome. This test is indicated for individuals presenting with characteristic symptoms such as developmental delay, hypotonia, cataracts, and immune deficiency, or for families with a history of the condition. Genetic confirmation helps in accurate diagnosis, prognosis, and management planning, as well as providing information for recurrence risk assessment in future pregnancies.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile EDTA vacutainer for blood collection.
- For FTA card, apply blood drops to the designated circles and air dry.
- Label the sample with patient details and date of collection.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Vici syndrome is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management 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 received after prolonged transit time without proper storage
Understanding Your Results
Positive (Pathogenic or Likely Pathogenic variant)
Confirms the diagnosis of Vici syndrome. Genetic counseling is recommended for the family.
Action: Discuss management options and recurrence risks.
Negative (No pathogenic variant)
No disease-causing mutation found in EPG5. Consider other genetic causes if symptoms persist.
Action: Further evaluation may be needed.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown.
Action: Additional family testing or functional studies may be required.
If you or your child has symptoms suggestive of Vici syndrome, or if there is a family history, consult a clinical geneticist or pediatrician for evaluation and genetic testing.
Limitations
- ⚠This test detects mutations only in the EPG5 gene; other genes causing similar phenotypes are not analyzed.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess the functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare genetic variants of uncertain significance
Compare With Similar Tests
| Test | EPG5 Gene Vici syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted EPG5 Single Gene Test |
|---|---|---|---|
| Comparison | EPG5 Gene Vici syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the EPG5 gene Vici syndrome NGS genetic test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
What is Vici syndrome?
Who should consider this test?
Does DNA Labs India provide home sample collection?
What technology is used for this test?
Can this test detect all types of EPG5 mutations?
Is genetic counseling included?
What is the CPT code for this test?
Is this test covered by insurance?
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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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✓ 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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