PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Metabolic Blood Disorders
The PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited metabolic disorders affecting red blood cell function. This advanced genetic analysis provides definitive identification of mutations in the PKLR gene, which encodes the pyruvate kinase enzyme essential for red blood cell energy metabolism and survival.
What This Test Measures and Detects
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the PKLR gene for pathogenic variants that cause pyruvate kinase deficiency. The test specifically identifies:
- Point mutations, deletions, and insertions in the PKLR gene
- Autosomal recessive inheritance patterns
- Genetic variants affecting pyruvate kinase enzyme function
- Mutations leading to impaired glycolysis in red blood cells
- Genetic markers associated with hemolytic anemia severity
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing symptoms or with clinical indications including:
- Unexplained chronic hemolytic anemia
- Persistent jaundice and elevated bilirubin levels
- Fatigue, weakness, and exercise intolerance
- Gallstones at a young age
- Splenomegaly (enlarged spleen)
- Family history of hemolytic anemia or pyruvate kinase deficiency
- Abnormal red blood cell morphology on peripheral blood smear
- Unexplained neonatal jaundice requiring phototherapy
Clinical Benefits of Genetic Testing
Undergoing the PKLR gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms pyruvate kinase deficiency versus other hemolytic anemias
- Personalized Treatment: Guides appropriate management including splenectomy considerations
- Genetic Counseling: Enables informed family planning decisions
- Prognostic Information: Helps predict disease severity and progression
- Therapeutic Guidance: Informs decisions about blood transfusions and supportive care
- Early Intervention: Facilitates timely management to prevent complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and hematologists:
- Positive Result: Identifies pathogenic mutations confirming pyruvate kinase deficiency diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps for medical management.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including symptoms and previous laboratory findings
- Participation in genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
- Previous hematological test results for comprehensive assessment
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services with consistent quality standards nationwide.
Take Control of Your Genetic Health Today
Don’t let unexplained symptoms or family history concerns go unaddressed. The PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for better health management. Our expert team of genetic counselors and hematologists are ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and receiving personalized medical guidance.
