CPS1 Gene Carbamoylphosphate synthetase I deficiency NGS Genetic Test
Short Name: CPS1 Gene Deficiency Test
Also known as: CPS1 Deficiency, Carbamoylphosphate Synthetase I Deficiency, Urea Cycle Disorder
CPS1 Gene Carbamoylphosphate synthetase I deficiency 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 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 CPS1 gene that cause Carbamoylphosphate Synthetase I Deficiency, enabling early diagnosis, genetic counselling, and appropriate management of this urea cycle disorder.
- Test Code
- 1895
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Schedule a genetic counselling session to discuss clinical history and family pedigree. Ensure informed consent is obtained.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample will be collected via venipuncture or from a finger-prick for FTA card. Minimal discomfort is expected.
Report Delivery
The sample is processed for NGS analysis. Genetic counselling will follow to interpret results.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the CPS1 gene that cause Carbamoylphosphate Synthetase I Deficiency, enabling early diagnosis, genetic counselling, and appropriate management of this urea cycle disorder.
How to Prepare
- Provide detailed clinical history and family medical background
- Avoid eating or drinking if fasting is advised, though not typically required for this test
- Ensure proper identification of the patient
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing is vital for managing urea cycle disorders and guiding family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling or missing consent forms
Understanding Your Results
Positive for pathogenic CPS1 mutation
Confirms Carbamoylphosphate Synthetase I Deficiency. Immediate medical intervention and genetic counselling recommended.
Negative for known mutations
No pathogenic variants detected in the CPS1 gene. Clinical correlation and additional testing may be needed if symptoms persist.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unclear. Further family studies and follow-up recommended.
Consult a geneticist or metabolic specialist if symptoms such as vomiting, lethargy, seizures, or elevated ammonia levels are present, or if there is a family history of urea cycle disorders.
Limitations
- ⚠Detects only known mutations in the CPS1 gene; novel variants may not be identified
- ⚠Does not assess other urea cycle disorder genes unless specified
- ⚠Carrier status may require additional confirmatory tests
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Risk of infection is minimal with sterile techniques
- ●Psychological impact of genetic results, addressed through counselling
Interfering Factors
- ●Recent blood transfusion may affect DNA analysis
- ●Insufficient or degraded sample quality
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