RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic Test
Short Name: AGS Type 2 NGS Test
Also known as: AGS Type 2, RNASEH2B-related Aicardi-Goutieres syndrome
RNASEH2B Gene Aicardi-Goutieres 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 available in 3 to 4 weeks after sample receipt.. 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
To diagnose Aicardi-Goutieres Syndrome type 2 by identifying pathogenic mutations in the RNASEH2B gene using Next Generation Sequencing, aiding in clinical management and genetic counseling.
- Test Code
- 1503
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports available in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Genetic counseling session to discuss test implications, family history, and obtain informed consent. Ensure sample collection is scheduled appropriately.
Method: Venipuncture or FTA card application
Laboratory Analysis
Blood sample collected via venipuncture or FTA card application. Minimal discomfort, similar to routine blood draw.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities unless otherwise advised.
Timeline: Reports available in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Aicardi-Goutieres Syndrome type 2 by identifying pathogenic mutations in the RNASEH2B gene using Next Generation Sequencing, aiding in clinical management and genetic counseling.
How to Prepare
- Fast for 4-6 hours if required for other tests, but not mandatory for this test.
- Bring identification and prescription if available.
- Ensure proper labeling of sample with patient details.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for AGS type 2 via NGS is vital for early diagnosis, guiding management, and family counseling to address neurological symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood sample
- Improper labeling or missing patient information
- Contaminated sample
Understanding Your Results
No pathogenic variants detected
Suggests no mutations in RNASEH2B gene; AGS type 2 unlikely but clinical correlation needed.
Pathogenic variant detected
Confirms genetic cause of AGS type 2; supports diagnosis and guides management.
Variant of uncertain significance
Further testing or family studies may be required to clarify significance.
If symptoms such as seizures, developmental delays, or vision problems are present, especially in infants. Consult a neurologist or geneticist for evaluation and test interpretation.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Does not assess other genes associated with AGS or similar disorders
- ⚠Results require interpretation by a geneticist in clinical context
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic diagnosis; counseling provided
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Hemolyzed blood sample
- ●Contamination during collection or processing
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic Test | Brain MRI | Cerebrospinal Fluid Analysis | Single Gene Sanger Sequencing | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic Test | Imaging can show brain abnormalities but cannot identify genetic mutations. | May indicate inflammation but not specific to AGS type 2. | NGS is more comprehensive for detecting multiple variants in RNASEH2B gene. | Broader scope but more costly; NGS targeted test is specific and cost-effective for AGS type 2. |
Frequently Asked Questions
What is Aicardi-Goutieres Syndrome Type 2?
How is AGS type 2 diagnosed?
What does the NGS genetic test involve?
What is the cost of the test in India?
Is the test painful?
How long does it take to get results?
Can the test be done at home?
What if the test is positive?
Are there any risks?
How should I prepare for the test?
Is the test accurate?
What is included in the price?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.