PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test
Introduction
The PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test is a cutting-edge diagnostic tool used to identify mutations in the PKLR gene, which can lead to pyruvate kinase deficiency. This condition is a type of metabolic disorder characterized by hemolytic anemia, where red blood cells are destroyed faster than they can be produced. Understanding your genetic predisposition to this disorder is crucial for effective management and treatment.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to detect specific mutations in the PKLR gene. By analyzing the genetic code, healthcare providers can determine if a patient has inherited the genetic markers associated with pyruvate kinase deficiency, allowing for timely intervention and personalized care.
Who Should Consider This Test
Individuals who should consider this test include:
- Those with a family history of pyruvate kinase deficiency or hemolytic anemia.
- Patients exhibiting symptoms such as fatigue, jaundice, or splenomegaly.
- Individuals with unexplained anemia or elevated bilirubin levels.
Benefits of Taking the Test
Taking the PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test offers several benefits:
- Early diagnosis and intervention can significantly improve patient outcomes.
- Understanding genetic risks can aid in family planning and management strategies.
- Personalized treatment plans can be developed based on genetic findings.
Understanding Your Results
Results from this test will indicate the presence or absence of mutations in the PKLR gene. A positive result may suggest a higher likelihood of developing pyruvate kinase deficiency, while a negative result may provide reassurance. It is essential to discuss your results with a healthcare professional who can guide you on the next steps and any necessary lifestyle adjustments.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu. Our team is ready to assist you with the PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test. To book the test or for more information, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Before taking the test, it is recommended to have a genetic counseling session to draw a pedigree chart of family members affected by pyruvate kinase deficiency with hemolytic anemia. A clinical history of the patient will also be required.
With a turnaround time of 3 to 4 weeks, we ensure you receive your results promptly to facilitate timely medical decisions.
