ADAR Gene Aicardi-Goutieres Syndrome Type 6 NGS Genetic Test
Short Name: ADAR AGS6 NGS Test
Also known as: ADAR Gene Mutation Analysis, Aicardi-Goutieres Syndrome Type 6 Genetic Testing, AGS6 NGS Test
ADAR Gene Aicardi-Goutieres Syndrome Type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Results are generally delivered within 3-4 weeks after the sample reaches the laboratory. A preliminary report may be available earlier if Sanger confirmation is not required.. 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 pathogenic variants in the ADAR gene that are associated with Aicardi-Goutieres syndrome type 6. Genetic confirmation enables early intervention, management of symptoms, and informed recurrence-risk counseling for families.
- Test Code
- 3859
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are generally delivered within 3-4 weeks after the sample reaches the laboratory. A preliminary report may be available earlier if Sanger confirmation is not required.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. Please provide a detailed clinical history and family pedigree information. A genetic counselling session is required before sample collection to draw a family tree and explain the test utility, limitations, and possible outcomes.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample is drawn by a trained phlebotomist. The procedure takes about 5-10 minutes and is associated with minimal discomfort.
Report Delivery
You can resume normal activities immediately after sample collection. The blood sample will be transported to the laboratory under controlled conditions and processed within the accepted stability window.
Timeline: Results are generally delivered within 3-4 weeks after the sample reaches the laboratory. A preliminary report may be available earlier if Sanger confirmation is not required.
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the ADAR gene that are associated with Aicardi-Goutieres syndrome type 6. Genetic confirmation enables early intervention, management of symptoms, and informed recurrence-risk counseling for families.
How to Prepare
- Carry the referral or clinical notes and patient ID proof
- No fasting is required for this test
- Inform the laboratory if the patient has received a blood transfusion or bone marrow transplant in the past 4 weeks
- A parent or legal guardian must accompany and consent for minor patients
- For home collection, ensure the patient is available at the scheduled time
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early molecular confirmation of AGS6 allows families to receive targeted therapies, early intervention services, and accurate recurrence risk information. I strongly recommend genetic testing for any child with unexplained neurodevelopmental regression."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or visibly haemolyzed sample
- Inadequate blood volume (less than 1 mL)
- Sample received after more than 72 hours at room temperature
- Unlabelled or mislabelled sample
- Suspected sample mix-up
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Confirms a molecular diagnosis of Aicardi-Goutieres syndrome type 6. Genetic counselling and targeted management are recommended.
Variant of uncertain significance (VUS) detected
The variant is not classified as disease-causing or benign. Further family segregation studies and clinical correlation are recommended.
No pathogenic variant detected
No disease-causing mutation found in the ADAR gene. If clinical suspicion remains high, consider testing other AGS-related genes or whole exome sequencing.
Benign or likely benign variant detected
The variant is considered clinically insignificant and is unlikely to contribute to the patient's symptoms.
If a pathogenic or likely pathogenic ADAR variant is detected, it is recommended to consult a clinical geneticist and a paediatric neurologist for coordinated care. Family members may also benefit from predictive testing and genetic counselling.
Limitations
- ⚠NGS may not detect large gene deletions/duplications, deep intronic mutations, or copy number variants involving the ADAR gene without additional analysis
- ⚠Variants of uncertain significance (VUS) may require further family studies
- ⚠This test does not rule out mutations in other genes that may cause a similar clinical phenotype
- ⚠Not intended for prenatal diagnosis unless specifically validated for that purpose
- ⚠The interpretation is based on current medical knowledge; reclassification of variants may occur over time
Risks & Considerations
- ●Minimal bleeding or bruising at the venipuncture site
- ●Dizziness or fainting during blood collection
- ●Very small risk of local infection
Interfering Factors
- ●Clotted or haemolyzed blood sample
- ●Sample mix-up or mislabelling
- ●Low DNA yield or degradation
- ●Maternal cell contamination in prenatal specimens
- ●Presence of homologous pseudogene sequences may affect sequencing alignment in rare cases
Compare With Similar Tests
| Test | ADAR Gene Aicardi-Goutieres Syndrome Type 6 NGS Genetic Test | ADAR gene Sanger sequencing | Aicardi-Goutieres syndrome gene panel | Whole exome sequencing (WES) |
|---|---|---|---|---|
| Comparison | ADAR Gene Aicardi-Goutieres Syndrome Type 6 NGS Genetic Test |
Frequently Asked Questions
What is the ADAR gene Aicardi-Goutieres syndrome type 6 NGS genetic test?
Who should take this genetic test?
What is the cost of the ADAR gene AGS6 NGS test?
How is the sample collected?
Do I need to fast before the test?
How long does it take to get the results?
What diseases are associated with the ADAR gene?
Can this test be done on children?
Is a genetic counselling session included?
What is the difference between NGS and Sanger sequencing for ADAR?
Does home sample collection cover all cities?
What does a negative result mean?
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.