CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test
Introduction
The CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test is an advanced diagnostic tool designed to identify mutations in the CPS1 gene that can lead to serious metabolic disorders. This test utilizes Next Generation Sequencing (NGS) technology to provide a comprehensive analysis of the genetic material, allowing healthcare providers to diagnose CPS1 deficiency accurately.
What the Test Measures
This test specifically detects genetic mutations in the CPS1 gene, which is essential for the urea cycle. Deficiencies in this gene can result in the accumulation of ammonia in the blood, leading to severe neurological issues and metabolic disturbances.
Who Should Consider This Test?
Individuals who should consider the CPS1 Gene test include:
- Those with a family history of metabolic disorders.
- Patients exhibiting symptoms such as lethargy, vomiting, or neurological impairment.
- Individuals who have undergone genetic counseling.
Benefits of Taking the Test
- Early diagnosis of CPS1 deficiency allows for timely intervention and management.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the risk of passing the condition to offspring.
Understanding Your Results
Results from the CPS1 Gene test will indicate whether mutations are present in the CPS1 gene. A genetic counselor will help interpret these results and discuss potential next steps based on the findings.
Test Details
| Test Name | CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test |
|---|---|
| Discount Price | 400000 NGN |
| Regular Price | 560000 NGN |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Pre-Test Instructions | Clinical History of Patient who is going for the test and a Genetic Counselling session to draw a pedigree chart of family members affected with CPS1 deficiency. |
Book Your Test Today!
Don’t wait any longer to understand your genetic health. Book the CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test today! For inquiries or to schedule your appointment, call or WhatsApp us at +2348077798758.
