POR Gene Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency NGS Genetic DNA Test
Understanding POR Gene Adrenal Hyperplasia
POR gene adrenal hyperplasia represents a rare form of congenital adrenal hyperplasia caused by mutations in the cytochrome P450 oxidoreductase (POR) gene. This essential enzyme serves as an electron donor for multiple microsomal cytochrome P450 enzymes involved in steroid hormone synthesis, drug metabolism, and cholesterol biosynthesis. When POR function is compromised, it disrupts multiple steroidogenic pathways simultaneously, leading to complex hormonal imbalances and distinctive clinical presentations.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically identifies mutations in the POR gene that cause cytochrome P450 oxidoreductase deficiency. The test examines:
- Complete sequencing of the POR gene coding regions
- Detection of point mutations, insertions, and deletions
- Analysis of splice site variants affecting gene function
- Comprehensive coverage of all known pathogenic variants
Clinical Significance of POR Mutations
POR mutations disrupt the electron transfer to several cytochrome P450 enzymes, including:
- 21-hydroxylase (CYP21A2)
- 17α-hydroxylase/17,20-lyase (CYP17A1)
- Aromatase (CYP19A1)
- Steroidogenic acute regulatory protein interactions
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Ambiguous genitalia in newborns or infants
- Adrenal insufficiency symptoms including fatigue and salt craving
- Antley-Bixler syndrome features with craniosynostosis
- Maternal virilization during pregnancy
- Delayed puberty or abnormal sexual development
- Family history of POR gene mutations
- Unexplained skeletal abnormalities
- Complex steroid hormone profile abnormalities
Key Benefits of POR Gene Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of cytochrome P450 oxidoreductase deficiency
- Personalized Treatment: Guides hormone replacement therapy and management strategies
- Family Planning: Enables genetic counseling for affected families
- Early Intervention: Facilitates timely management of adrenal crises
- Comprehensive Analysis: Uses cutting-edge NGS technology for thorough genetic assessment
- Long-term Monitoring: Establishes baseline for ongoing clinical care
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and presented in a comprehensive report:
Positive Result Interpretation
A positive result indicates the presence of pathogenic POR gene mutations confirming cytochrome P450 oxidoreductase deficiency. This finding:
- Confirms the genetic basis of clinical symptoms
- Guides specific hormone replacement therapy
- Provides information for family member testing
- Helps anticipate potential complications
Negative Result Interpretation
A negative result suggests that POR gene mutations were not detected, indicating:
- Alternative causes for clinical presentation should be investigated
- Other forms of congenital adrenal hyperplasia may be considered
- Additional genetic testing might be recommended
- Clinical correlation remains essential
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance, requiring:
- Additional family studies for clarification
- Ongoing research correlation
- Clinical follow-up and monitoring
- Potential reclassification as new evidence emerges
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
GGC DNA provides comprehensive POR gene testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Pre-Test Requirements
Before scheduling your POR Gene Adrenal Hyperplasia NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Understanding of test implications and potential outcomes
- Appropriate sample collection preparation
Sample Collection and Processing
We accept multiple sample types for your convenience:
- Blood samples collected by trained phlebotomists
- Extracted DNA from previous genetic testing
- One drop of blood on FTA card for easy transport
Turnaround time for results is typically 3-4 weeks from sample receipt.
Take Control of Your Genetic Health
Understanding your genetic predisposition to cytochrome P450 oxidoreductase deficiency can significantly impact your health management and treatment outcomes. Our comprehensive POR gene testing provides the clarity needed for informed medical decisions and personalized care strategies.
Ready to schedule your POR Gene Adrenal Hyperplasia NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
