ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic Test
Short Name: ATIC Gene NGS Test
Also known as: AICA-ribosiduria, ATIC Deficiency Disorder
ATIC Gene AICA-ribosiduria due to ATIC deficiency 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 from 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 AICA-ribosiduria due to ATIC deficiency by detecting pathogenic mutations in the ATIC gene using Next Generation Sequencing, aiding in clinical management and genetic counseling.
- Test Code
- 1881
- 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
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history and undergo genetic counseling session to draw a family pedigree chart.
Method: Venipuncture or fingerstick
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.
Report Delivery
Sample labeled and transported to the lab under ambient temperature conditions.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To diagnose AICA-ribosiduria due to ATIC deficiency by detecting pathogenic mutations in the ATIC gene using Next Generation Sequencing, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper sample handling and labeling
- Follow lab guidelines for blood collection or FTA card use
- Maintain sample at room temperature during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing is crucial for managing AICA-ribosiduria and planning appropriate interventions, especially in families with a history of metabolic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrect sample type
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Pathogenic ATIC gene mutation detected, confirming AICA-ribosiduria due to ATIC deficiency
Result type: Positive
No pathogenic mutations detected; consider other genetic or metabolic causes
Result type: Negative
Genetic variant identified but clinical significance unclear; recommend genetic counseling
Result type: Variant of Uncertain Significance
If symptoms suggestive of AICA-ribosiduria are present, or for family planning if a mutation is identified in a relative.
Limitations
- ⚠May not detect all possible ATIC gene mutations
- ⚠Results require interpretation by a genetic counselor
- ⚠Not suitable for carrier testing without additional counseling
Risks & Considerations
- ●Minimal physical risk from blood draw
- ●Potential psychological impact from results
- ●Requires informed consent and genetic counseling
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Insufficient sample volume
Compare With Similar Tests
| Test | ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic Test | Whole Exome Sequencing | Metabolic Disorder Panel |
|---|---|---|---|
| Comparison | ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic Test |
Frequently Asked Questions
What is ATIC Gene AICA-ribosiduria due to ATIC deficiency?
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Is genetic counseling included in the test cost?
What sample is required for the ATIC Gene test?
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