PSPH Gene Phosphoserine Phosphatase Deficiency NGS Genetic DNA Test
Introduction
The PSPH Gene Phosphoserine Phosphatase Deficiency NGS Genetic DNA Test is a crucial diagnostic tool that helps identify genetic mutations associated with phosphoserine phosphatase deficiency. This condition can lead to various metabolic disorders, making early detection vital for effective management and treatment. Understanding your genetic predisposition allows you to take proactive measures in your health journey.
What the Test Measures
This genetic test analyzes the PSPH gene, which plays a significant role in the metabolism of serine, an amino acid essential for many bodily functions. By utilizing Next Generation Sequencing (NGS) technology, the test detects mutations that could lead to phosphoserine phosphatase deficiency, providing valuable insight into your metabolic health.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of metabolic disorders, such as developmental delays, neurological issues, or unexplained metabolic disturbances. Additionally, those with a family history of phosphoserine phosphatase deficiency or related metabolic disorders should consider this test to assess their risk.
Benefits of Taking the Test
- Early detection of potential metabolic disorders.
- Informed decision-making regarding treatment and management strategies.
- Understanding genetic risks for family planning.
- Access to genetic counseling for personalized health advice.
Understanding Your Results
Results from the PSPH Gene Phosphoserine Phosphatase Deficiency NGS Genetic DNA Test will be provided along with a detailed interpretation. A genetic counselor will help you understand the implications of your results and guide you on the next steps, should any mutations be detected.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
PSPH Gene Phosphoserine Phosphatase Deficiency NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking Your Test
To book the PSPH Gene Phosphoserine Phosphatase Deficiency NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
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 PSPH Gene Phosphoserine Phosphatase Deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoserine phosphatase deficiency
Specialty: General Physician, Department: Genetics, Method: NGS Technology, Disease Type: Metabolic Disorders