AMPD3 Gene AMP Deaminase Deficiency Erythrocytic NGS Genetic DNA Test
The AMPD3 Gene AMP Deaminase Deficiency Erythrocytic NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the AMPD3 gene that can lead to AMP deaminase deficiency. This condition is associated with various metabolic disorders that can significantly impact an individual’s health, particularly concerning red blood cell function.
Importance of the Test
This test is crucial for diagnosing patients who may be at risk for metabolic disorders due to genetic variations. Early detection through genetic testing allows for timely interventions, management, and informed decisions regarding treatment options.
What the Test Measures
The AMPD3 Gene AMP Deaminase Deficiency Erythrocytic NGS Genetic DNA Test measures specific genetic variations in the AMPD3 gene. These variations can affect the enzyme’s function that is vital for the metabolism of adenine, leading to potential health complications.
Who Should Consider This Test?
- Individuals experiencing symptoms of metabolic disorders such as fatigue, muscle weakness, or unexplained anemia.
- Those with a family history of AMP deaminase deficiency or related metabolic disorders.
- Patients referred by a general physician or genetic counselor for further evaluation.
Benefits of Taking the Test
- Provides clarity on the genetic basis of symptoms experienced.
- Enables personalized treatment plans based on genetic findings.
- Helps in family planning and understanding hereditary risks.
- Supports informed decision-making regarding lifestyle and health management.
Understanding Your Results
Results from the AMPD3 Gene AMP Deaminase Deficiency Erythrocytic NGS Genetic DNA Test will indicate whether any genetic variations were detected. A genetic counselor or healthcare provider will help interpret these results and discuss their implications for your health and family.
Test Pricing
Test Name | Discount Price (NGN) | Regular Price (NGN) |
---|---|---|
AMPD3 Gene AMP Deaminase Deficiency Erythrocytic NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the AMPD3 Gene AMP Deaminase Deficiency Erythrocytic NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and help you schedule your appointment.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One Drop Blood on FTA Card
Pre-Test Instructions: Ensure a clinical history is provided, and consider a genetic counseling session to draw a pedigree chart of family members affected with AMP deaminase deficiency.
Specialty: General Physician | Department: Genetics | Method: NGS Technology | Disease Type: Metabolic Disorders