CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test
Introduction
The CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test is a specialized diagnostic tool that plays a vital role in detecting metabolic disorders caused by a deficiency in the CPS1 enzyme. This enzyme is essential for the urea cycle, which helps to remove ammonia from the bloodstream. A deficiency can lead to serious health issues, making early detection crucial.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the CPS1 gene for mutations that may lead to Carbamoylphosphate Synthetase I deficiency. It provides a comprehensive examination of the genetic makeup associated with this metabolic disorder.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Patients with symptoms of hyperammonemia, such as lethargy, vomiting, and neurological issues.
- Those with a family history of metabolic disorders, particularly in families affected by CPS1 deficiency.
- Individuals undergoing genetic counseling for hereditary conditions.
Benefits of Taking the Test
Taking the CPS1 Gene test offers several advantages:
- Early detection of CPS1 deficiency can lead to timely intervention and management.
- Understanding genetic risks can aid in family planning and counseling.
- Provides clarity on unexplained metabolic symptoms.
Understanding Your Results
Results from the CPS1 Gene test will indicate whether mutations are present in the CPS1 gene. A genetic counselor or physician will help interpret the results, explaining their implications for health and any necessary follow-up actions.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Booking Information
We have branches across Kenya and offer a home sample collection service for your convenience. If you or a loved one may benefit from the CPS1 Gene test, book your test today by calling or WhatsApp us at +254711564616.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or even one drop of blood on an FTA card. Prior to testing, a clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members is recommended.
