EPAS1 Gene Erythrocytosis Familial Type 4 NGS Genetic DNA Test
Comprehensive Genetic Screening for Hereditary Blood Disorders
The EPAS1 Gene Erythrocytosis Familial Type 4 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hereditary blood disorders. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the EPAS1 gene, which plays a crucial role in oxygen sensing and red blood cell regulation. Familial erythrocytosis type 4 is an inherited condition 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 analysis specifically targets the EPAS1 gene, also known as HIF2α (Hypoxia-Inducible Factor 2 Alpha), which regulates erythropoietin production in response to oxygen levels. The test detects:
- Pathogenic variants and mutations in the EPAS1 gene
- Single nucleotide polymorphisms associated with erythrocytosis
- Copy number variations affecting gene function
- Novel genetic alterations impacting oxygen sensing pathways
- Inheritance patterns for family risk assessment
Who Should Consider This Genetic Screening?
This test is particularly recommended for individuals experiencing:
- Unexplained elevated hemoglobin and hematocrit levels
- Family history of polycythemia or erythrocytosis
- Recurrent headaches, dizziness, or visual disturbances
- Fatigue, weakness, or itching after warm baths
- High blood pressure or cardiovascular symptoms
- Planning pregnancy with family history of blood disorders
- Abnormal blood counts without clear secondary causes
Significant Benefits of Genetic Testing
Undergoing the EPAS1 genetic test provides numerous advantages:
- Accurate Diagnosis: Distinguishes between primary and secondary erythrocytosis
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Informs reproductive decisions and genetic counseling
- Early Intervention: Enables proactive management of potential complications
- Risk Assessment: Identifies at-risk family members for preventive screening
- Peace of Mind: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and hematologists:
- Positive Result: Indicates the presence of a pathogenic EPAS1 mutation, confirming familial erythrocytosis type 4 diagnosis
- Negative Result: Suggests absence of known EPAS1 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family planning and genetic counseling purposes
All positive results include comprehensive genetic counseling to discuss implications, treatment options, and family screening recommendations.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| EPAS1 Gene Erythrocytosis Familial Type 4 NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about hereditary blood disorders affect your quality of life. Our comprehensive EPAS1 genetic testing provides the answers you need for informed healthcare decisions. With rapid turnaround times of 3-4 weeks and simple sample collection methods including blood draw or FTA card, getting tested has never been easier.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your EPAS1 Gene Erythrocytosis Familial Type 4 NGS Genetic DNA Test. Our expert team is ready to guide you through every step of the process and help you understand your genetic health.
