ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
Short Name: ATRX Gene NGS Test
Also known as: ATRX syndrome, Alpha-thalassemia X-linked mental retardation syndrome, ATR-X syndrome
ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
The purpose of the ATRX Gene NGS Genetic Test is to diagnose Alpha-thalassemia/mental retardation syndrome by detecting pathogenic mutations in the ATRX gene using next-generation sequencing technology. This aids in confirming the clinical diagnosis, guiding treatment strategies, and facilitating genetic counseling for families.
- Test Code
- 5572
- 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
- NGS Technology
Sample Collection
A clinical history review and genetic counseling session are recommended to draw a pedigree chart of affected family members.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist using standard venipuncture or finger-prick methods.
Report Delivery
The sample is labeled, stored at ambient temperature, and transported to the laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ATRX Gene NGS Genetic Test is to diagnose Alpha-thalassemia/mental retardation syndrome by detecting pathogenic mutations in the ATRX gene using next-generation sequencing technology. This aids in confirming the clinical diagnosis, guiding treatment strategies, and facilitating genetic counseling for families.
How to Prepare
- No fasting required
- Ensure proper identification of the patient
- Use sterile collection equipment
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This test is crucial for diagnosing ATRX syndrome, enabling early intervention and genetic counseling for affected families."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of ATRX syndrome. Genetic counseling and management planning are recommended.
No pathogenic variant detected
Unlikely to have ATRX syndrome, but clinical correlation is necessary. Consider other genetic tests if symptoms persist.
Consult a doctor if symptoms such as intellectual disability, developmental delays, seizures, or anemia are present, especially in males with a family history of X-linked disorders.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of test results
- ●Potential for uncertain findings requiring further testing
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Hemolyzed blood sample
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Frequently Asked Questions
What is ATRX Gene Alpha-thalassemia/mental retardation syndrome?
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