ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test
Short Name: ERCC6 Gene NGS Test
Also known as: De Sanctis-Cacchione Syndrome, ERCC6-related disorder
ERCC6 Gene De Sanctis-Cacchione 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 3-4 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 identify mutations in the ERCC6 gene to diagnose De Sanctis-Cacchione Syndrome, confirm clinical suspicions, guide treatment decisions, and provide genetic counseling for affected families.
- Test Code
- 2711
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Provide clinical history and undergo genetic counseling as recommended.
Method: Venipuncture or DNA Extraction
Laboratory Analysis
Standard blood draw procedure or DNA extraction from provided sample.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store sample as instructed.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the ERCC6 gene to diagnose De Sanctis-Cacchione Syndrome, confirm clinical suspicions, guide treatment decisions, and provide genetic counseling for affected families.
How to Prepare
- Provide clinical history of the patient
- Attend a genetic counseling session to draw a pedigree chart
- Ensure sample is collected in appropriate container
- Label sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing is crucial for managing symptoms, providing genetic counseling, and guiding family planning for De Sanctis-Cacchione Syndrome."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Incorrect labeling
- Contaminated sample
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of De Sanctis-Cacchione Syndrome. Genetic counseling and management planning recommended.
Negative for pathogenic variant
No mutations detected in ERCC6 gene. Consider other genetic or clinical causes if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a geneticist or healthcare provider immediately after receiving test results, especially if positive, to discuss management options, genetic counseling, and family planning.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of test results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test | ERCC2 Gene Test | Neurological Genetic Panel | Whole Exome Sequencing | Chromosomal Microarray |
|---|---|---|---|---|---|
| Comparison | ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test | Tests for mutations in ERCC2 gene, associated with xeroderma pigmentosum, not De Sanctis-Cacchione Syndrome. | A broader panel testing multiple genes for neurological disorders, while this test is specific to ERCC6. | Analyzes all protein-coding genes, more comprehensive but higher cost and longer turnaround time. | Detects chromosomal abnormalities, not specific gene mutations like ERCC6. |
Frequently Asked Questions
What is De Sanctis-Cacchione Syndrome?
What are the common symptoms of this syndrome?
How is the ERCC6 Gene NGS Genetic Test performed?
What is the cost of this genetic test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample types are accepted for this test?
Do I need to fast before this test?
What should I do before taking the test?
How accurate is this genetic test?
What if the test result is positive?
Is this test covered by insurance in India?
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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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