ASL Gene Argininosuccinic aciduria NGS Genetic Test
Short Name: ASL Gene ASA NGS Test
Also known as: Argininosuccinic acid synthetase deficiency, ASA
ASL Gene Argininosuccinic aciduria 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the ASL gene for definitive diagnosis of argininosuccinic aciduria, guiding treatment and genetic counseling.
- Test Code
- 4638
- 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
No specific preparation required. Ensure genetic counseling session is completed and pedigree chart is drawn.
Method: Venipuncture
Laboratory Analysis
Blood sample will be collected via venipuncture by a trained phlebotomist. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Sample will be transported to the lab under controlled conditions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the ASL gene for definitive diagnosis of argininosuccinic aciduria, guiding treatment and genetic counseling.
How to Prepare
- Provide clinical history and family details during genetic counseling.
- Use sterile equipment for blood collection.
- Label samples correctly with patient information.
- Store samples at ambient room temperature if not processed immediately.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through NGS testing is crucial for managing argininosuccinic aciduria and preventing complications such as hyperammonemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of argininosuccinic aciduria. Genetic counseling and treatment initiation recommended.
Variant of uncertain significance (VUS)
Further clinical correlation and family studies needed. May require repeat testing or additional genetic analysis.
No pathogenic variant detected
ASA unlikely due to ASL gene mutations. Consider other urea cycle disorders or metabolic conditions.
Consult a geneticist or metabolic specialist immediately if symptoms like seizures, lethargy, or vomiting occur, or if test results are positive or uncertain.
Limitations
- ⚠This test only analyzes the ASL gene; other genetic causes of similar symptoms are not covered.
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants.
- ⚠Results require correlation with clinical findings and other diagnostic tests.
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Very low risk of infection or fainting
- ●Psychological impact of genetic results, addressed through counseling
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Recent blood transfusions may affect DNA analysis
Frequently Asked Questions
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