EGLN1 Gene Erythrocytosis Familial Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Blood Disorders
The EGLN1 Gene Erythrocytosis Familial Type 3 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited hematological conditions. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify specific mutations in the EGLN1 gene, which plays a critical role in oxygen sensing and red blood cell regulation. Familial erythrocytosis type 3 is a rare inherited disorder characterized by excessive production of red blood cells, leading to increased blood viscosity and potential cardiovascular complications.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets and analyzes the EGLN1 gene, which encodes the prolyl hydroxylase domain-containing protein 2 (PHD2). The test detects:
- Point mutations in the EGLN1 gene coding regions
- Small insertions and deletions affecting gene function
- Genetic variants associated with impaired oxygen sensing
- Mutations that disrupt normal hypoxia-inducible factor regulation
- Inherited genetic markers for familial erythrocytosis type 3
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals experiencing:
- Unexplained elevated hemoglobin levels (above 16.5 g/dL in women, 18.5 g/dL in men)
- Persistent polycythemia without clear secondary causes
- Family history of erythrocytosis or blood disorders
- Early-onset thrombotic events or cardiovascular complications
- Headaches, dizziness, or visual disturbances related to hyperviscosity
- Itching after warm showers or baths (aquagenic pruritus)
- Fatigue and weakness despite normal iron levels
- Enlarged spleen (splenomegaly) without apparent cause
Benefits of EGLN1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out familial erythrocytosis type 3 with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management to prevent complications
- Differential Diagnosis: Helps distinguish between primary and secondary erythrocytosis
- Risk Assessment: Identifies at-risk family members for preventive monitoring
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of a pathogenic EGLN1 mutation associated with familial erythrocytosis type 3. This confirms the genetic basis of your condition and guides specific treatment strategies.
- Negative Result: Suggests that no known pathogenic EGLN1 mutations were detected. However, this doesn’t completely rule out other genetic causes of erythrocytosis.
- Variant of Uncertain Significance (VUS): Identifies a genetic change whose clinical significance is currently unknown. Additional family testing may be recommended.
- Carrier Status: May identify individuals who carry one copy of a mutated gene but don’t show symptoms.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | EGLN1 Gene Erythrocytosis Familial Type 3 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your hematological health continue. The EGLN1 Gene Erythrocytosis Familial Type 3 NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for better health management. Our experienced genetic counselors and hematology specialists are ready to guide you through the testing process and help interpret your results.
Book your comprehensive genetic test now by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic predisposition and receiving personalized medical care.
