RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic Test
Short Name: RNASEH2A AGS Type 4 NGS Test
Also known as: RNASEH2A Gene Sequencing, AGS Type 4 Genetic Test, Aicardi-Goutieres Syndrome 4 DNA Test, RNASEH2A NGS Panel Test
RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. 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 detect pathogenic mutations in the RNASEH2A gene using Next Generation Sequencing to confirm or rule out a diagnosis of Aicardi-Goutieres Syndrome Type 4. It aids clinicians in differential diagnosis, guides management decisions, supports genetic counselling for affected families, and enables carrier testing and prenatal planning.
- Test Code
- 1495
- CPT Code
- 81479
- ICD Code
- G31.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis
Sample Collection
A genetic counselling session is recommended before sample collection to document clinical history, draw a pedigree chart of family members, and discuss implications of testing.
Method: Venipuncture / Heel Prick (Neonates)
Laboratory Analysis
A peripheral blood sample (3-5 mL in EDTA tube) is collected via venipuncture. For neonates, a heel prick blood sample on an FTA card may be used. No fasting is required.
Report Delivery
The sample is labelled, stored at ambient room temperature, and transported to the laboratory following standard molecular diagnostics protocols. Results are delivered within 3 to 4 weeks.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic mutations in the RNASEH2A gene using Next Generation Sequencing to confirm or rule out a diagnosis of Aicardi-Goutieres Syndrome Type 4. It aids clinicians in differential diagnosis, guides management decisions, supports genetic counselling for affected families, and enables carrier testing and prenatal planning.
How to Prepare
- No fasting required prior to sample collection
- Inform the lab of any recent blood transfusions within the past 120 days
- Ensure the EDTA tube is gently inverted 8-10 times after collection
- Store the sample at ambient room temperature; do not freeze
- For FTA card samples, allow blood to air-dry completely before packaging
- Complete the clinical history form and genetic counselling pedigree chart prior to testing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Aicardi-Goutieres Syndrome Type 4 often presents in infancy with neurological regression and can mimic congenital viral infections. Early genetic confirmation through RNASEH2A sequencing is critical for initiating appropriate supportive care, avoiding unnecessary treatments, and enabling accurate genetic counselling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Sample collected in incorrect anticoagulant tube
- Unlabelled or mislabelled sample
- Insufficient sample volume
- Sample received without completed clinical history or consent form
Understanding Your Results
No disease-causing mutations were identified in the RNASEH2A gene. This does not fully exclude AGS, as mutations may reside in other AGS-associated genes. Clinical correlation and additional gene panel testing may be warranted.
One or more pathogenic or likely pathogenic variants were identified in RNASEH2A. In a homozygous or compound heterozygous state, this confirms a diagnosis of Aicardi-Goutieres Syndrome Type 4. Genetic counselling is strongly recommended.
A variant was detected that cannot currently be classified as pathogenic or benign. Clinical correlation, family segregation studies, and periodic reanalysis are recommended.
The individual carries one pathogenic variant in RNASEH2A and is an unaffected carrier. Genetic counselling regarding reproductive risk is advised.
Consult a neurologist or clinical geneticist if your child presents with unexplained seizures, developmental regression, microcephaly, feeding difficulties, persistent irritability, or abnormal brain imaging findings within the first year of life. Early referral for genetic testing is critical for timely diagnosis and management.
Limitations
- ⚠This test analyses only the RNASEH2A gene; other AGS-associated genes (TREX1, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1) are not covered
- ⚠Large genomic rearrangements or copy number variations may not be fully detected by standard NGS
- ⚠Intronic deep-intron variants beyond the targeted region may not be identified
- ⚠A negative result does not completely exclude AGS if mutations lie in other causative genes
- ⚠Variants of uncertain significance (VUS) may be reported and require clinical correlation
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Extremely rare risk of infection at the puncture site
- ●Psychological impact of results; genetic counselling is recommended before and after testing
Interfering Factors
- ●Recently received blood transfusion within 120 days may affect DNA purity
- ●Degraded or insufficient DNA sample quality
- ●Sample contamination during collection or transport
Compare With Similar Tests
| Test | RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic Test | TREX1 Gene Sequencing | AGS Gene Panel (Multi-Gene NGS) | Whole Exome Sequencing (WES) | Interferon Signature Testing |
|---|---|---|---|---|---|
| Comparison | RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic Test |
Frequently Asked Questions
What is Aicardi-Goutieres Syndrome Type 4?
What does the RNASEH2A Gene NGS Genetic Test detect?
What sample is required for this test?
How long does it take to get results?
What is the cost of this genetic test at DNA Labs India?
Is home sample collection available for this test?
What raw data files are provided with the report?
Can this test detect carriers of AGS Type 4?
What if the test result is negative but AGS is still suspected?
Is genetic counselling required before taking this test?
Is this test suitable for prenatal diagnosis?
How is AGS Type 4 inherited?
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.