ASS1 Gene Citrullinemia NGS Genetic Test
Also known as: Citrullinemia Type I
ASS1 Gene Citrullinemia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 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 ASS1 gene associated with citrullinemia type I for diagnostic and carrier testing.
- Test Code
- 1926
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling recommended to discuss test implications and family history.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture under sterile conditions.
Report Delivery
Sample transported to lab for DNA extraction and NGS analysis.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the ASS1 gene associated with citrullinemia type I for diagnostic and carrier testing.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Follow home collection guidelines if applicable
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early detection through ASS1 gene testing can guide treatment and improve outcomes for patients with citrullinemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
No pathogenic variants detected
Normal; low risk for citrullinemia type I, but clinical correlation recommended if symptoms present.
Pathogenic variant(s) detected
Carrier or affected status; genetic counseling and further clinical evaluation advised.
Consult a doctor if symptoms of hyperammonemia occur, or if genetic testing reveals pathogenic variants, for management and family planning.
Limitations
- ⚠Test does not detect mutations in other genes like SLC25A13 for citrullinemia type II
- ⚠Results require clinical correlation and genetic counseling
- ⚠May not identify all rare or novel variants
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological impact from genetic results
Compare With Similar Tests
| Test | ASS1 Gene Citrullinemia NGS Genetic Test | SLC25A13 Gene Test for Citrullinemia Type II |
|---|---|---|
| Comparison | ASS1 Gene Citrullinemia NGS Genetic Test |
Frequently Asked Questions
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