FECH Gene Protoporphyria Erythropoietic Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Erythropoietic Protoporphyria
The FECH Gene Protoporphyria Erythropoietic Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic tool for identifying genetic mutations associated with erythropoietic protoporphyria (EPP). This sophisticated genetic analysis utilizes next-generation sequencing technology to examine the FECH gene, which plays a crucial role in heme biosynthesis. EPP is an inherited metabolic disorder characterized by the accumulation of protoporphyrin in blood, skin, and liver tissues, leading to severe photosensitivity and potential organ damage.
What This Test Measures and Detects
This advanced genetic test specifically targets the ferrochelatase (FECH) gene, which encodes the enzyme responsible for inserting iron into protoporphyrin IX to form heme. The NGS technology employed in this test enables comprehensive detection of:
- Point mutations, insertions, and deletions in the FECH gene
- Compound heterozygous mutations that cause EPP
- Specific genetic variants affecting ferrochelatase enzyme activity
- Inheritance patterns and carrier status identification
- Genetic markers associated with disease severity and progression
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing the following symptoms or circumstances:
- Severe, painful skin reactions to sunlight exposure beginning in childhood
- Burning, stinging, or itching sensations on sun-exposed skin
- Swelling, redness, or skin lesions following minimal sun exposure
- Family history of photosensitivity disorders or erythropoietic protoporphyria
- Unexplained liver function abnormalities or gallstones
- Patients with suspected porphyria who have normal urinary porphyrin levels
- Individuals planning pregnancy with family history of EPP
Significant Benefits of Genetic Testing
Undergoing the FECH Gene Protoporphyria test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out EPP with high precision
- Early Intervention: Enables proactive management before severe complications develop
- Personalized Treatment: Guides appropriate photoprotection strategies and medical therapies
- Genetic Counseling: Provides essential information for family planning decisions
- Liver Monitoring: Identifies patients at risk for protoporphyric liver disease
- Quality of Life Improvement: Helps implement effective sun avoidance measures
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical specialists:
- Positive Result: Indicates the presence of FECH gene mutations consistent with EPP diagnosis. This confirms the genetic basis of your symptoms and enables targeted management strategies.
- Negative Result: Suggests that FECH gene mutations were not detected, making EPP unlikely. Further evaluation may be needed for other causes of photosensitivity.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis for proper interpretation.
- Carrier Status: Identifies individuals who carry one mutated FECH gene but typically do not show symptoms.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| FECH Gene Protoporphyria Erythropoietic Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| FECH Gene Protoporphyria Erythropoietic Type 1 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health Today
Don’t let unexplained photosensitivity symptoms compromise your quality of life. Our FECH Gene Protoporphyria test provides the clarity needed for proper diagnosis and management. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to help you understand your risk and take proactive steps toward better health management.
