RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 NGS Genetic Test
Short Name: RNASEH2C Gene AGS3 NGS Test
Also known as: Aicardi-Goutieres Syndrome Type 3, AGS3, RNASEH2C-related Aicardi-Goutieres Syndrome
RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To confirm diagnosis of Aicardi-Goutieres Syndrome Type 3 by detecting mutations in the RNASEH2C gene using Next-Generation Sequencing technology, aiding in clinical management and genetic counseling.
- Test Code
- 1500
- 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
No special preparation required. A genetic counseling session is recommended to discuss test implications and draw a family pedigree chart.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.
Report Delivery
Apply gentle pressure to the puncture site to stop bleeding and avoid strenuous activity.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To confirm diagnosis of Aicardi-Goutieres Syndrome Type 3 by detecting mutations in the RNASEH2C gene using Next-Generation Sequencing technology, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure the sample is properly labeled with patient details
- Transport the sample at room temperature
- Avoid hemolysis during blood draw
- Use the provided FTA card for one-drop blood if applicable
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis through NGS testing is crucial for managing AGS3 and planning appropriate care for affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
Understanding Your Results
Positive: Pathogenic variant detected
Consistent with a diagnosis of AGS3. Clinical correlation and genetic counseling recommended.
Negative: No pathogenic variants detected
AGS3 less likely, but does not rule out other genetic causes. Clinical evaluation advised.
Variant of uncertain significance (VUS)
Further testing, family studies, or clinical follow-up may be required for clarification.
If symptoms such as developmental delay, seizures, or skin rash are present, or if there is a family history of AGS, consult a geneticist or neurologist for evaluation and testing.
Limitations
- ⚠May not detect all genetic variants
- ⚠Variants of uncertain significance may be identified
- ⚠Requires integration with clinical findings and genetic counseling
Risks & Considerations
- ●Minor bruising or discomfort at the puncture site
- ●Rare risk of infection
- ●Psychological impact of results; genetic counseling advised
Interfering Factors
- ●Sample degradation
- ●Contamination
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 NGS Genetic Test | Sanger Sequencing | Whole Exome Sequencing | Neurological Genetic Panel |
|---|---|---|---|---|
| Comparison | RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 NGS Genetic Test | Lower throughput but higher specificity for known variants; typically more expensive per gene. | Broader analysis of all protein-coding genes; higher cost and longer turnaround time. | Tests multiple genes associated with neurological disorders; may be more cost-effective for differential diagnosis. |
Frequently Asked Questions
What is RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3?
What are the common symptoms of AGS3?
How is AGS3 diagnosed?
What is the cost of the NGS Genetic Test for AGS3?
Is home sample collection available for this test?
What sample type is required for the test?
How long does it take to receive the test report?
Is genetic testing always definitive for AGS3?
What should I do before getting tested?
Are there any risks associated with the test?
Is the test covered by insurance or government schemes?
How can I book the test with DNA Labs India?
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