PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test
The PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to detect genetic mutations associated with pyruvate kinase deficiency. This deficiency can lead to hemolytic anemia, a condition where red blood cells are destroyed faster than they can be made, resulting in various health complications.
Importance of the Test
This test is essential for patients exhibiting symptoms of hemolytic anemia, particularly those with a family history of metabolic disorders. Early detection through this genetic test can significantly improve patient management and treatment outcomes.
What the Test Measures
The PKLR Gene test specifically measures mutations in the PKLR gene that can lead to pyruvate kinase deficiency. By identifying these mutations, healthcare providers can better understand the underlying causes of anemia and tailor treatment plans accordingly.
Who Should Consider This Test?
- Individuals showing symptoms of hemolytic anemia, such as fatigue, pallor, and jaundice.
- Those with a family history of pyruvate kinase deficiency or related metabolic disorders.
- Patients with unexplained anemia that does not respond to conventional treatments.
Benefits of Taking the Test
- Accurate diagnosis of pyruvate kinase deficiency.
- Informed treatment options tailored to the genetic profile of the patient.
- Potential for genetic counseling for affected family members.
- Improved understanding of the risk of passing the condition to future generations.
Understanding Your Results
Results from the PKLR Gene test will indicate whether any mutations were detected. It is crucial to discuss these results with a healthcare provider, who can provide guidance on the implications and possible next steps based on the findings.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today
Don’t wait to get answers about your health. Book the PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test today! For more information or to schedule your appointment, please call or WhatsApp us at +2348077798758.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a genetic counseling session is recommended to gather the clinical history of the patient and draw a pedigree chart of affected family members.
