ALAS2 Gene Protoporphyria Erythropoietic X-Linked NGS Genetic DNA Test
Understanding X-Linked Erythropoietic Protoporphyria
X-linked erythropoietic protoporphyria (XLEPP) is a rare inherited metabolic disorder affecting heme biosynthesis, the essential process responsible for producing hemoglobin in red blood cells. This condition results from mutations in the ALAS2 gene located on the X chromosome, which encodes the enzyme 5-aminolevulinic acid synthase 2. When this enzyme becomes overactive due to genetic mutations, it leads to excessive accumulation of protoporphyrin IX in red blood cells, plasma, and tissues, causing severe photosensitivity and potential liver damage.
What This Advanced Genetic Test Detects
Our ALAS2 Gene Protoporphyria NGS Genetic DNA Test utilizes cutting-edge Next-Generation Sequencing technology to comprehensively analyze the entire ALAS2 gene for pathogenic mutations. The test specifically identifies:
- Point mutations affecting enzyme function
- Deletions and insertions in the ALAS2 gene
- Missense mutations altering protein structure
- Regulatory region variants affecting gene expression
- X-linked inheritance pattern confirmation
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Severe skin pain, burning, or itching within minutes of sun exposure
- Unexplained swelling and redness after sunlight exposure
- Chronic abdominal pain without clear diagnosis
- Family history of photosensitivity disorders
- Elevated liver enzymes or liver function abnormalities
- Suspected porphyria based on clinical symptoms
- Children with unusual reactions to sunlight
Clinical Indications for Testing
Patients presenting with characteristic symptoms of erythropoietic protoporphyria, including immediate painful photosensitivity, skin changes upon sun exposure, and potential hepatic involvement should undergo genetic testing. The test is particularly important for males, as X-linked inheritance typically affects males more severely, though carrier females may exhibit symptoms.
Comprehensive Benefits of Genetic Testing
- Accurate Diagnosis: Provides definitive confirmation of X-linked erythropoietic protoporphyria
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management to prevent complications
- Symptom Management: Guides appropriate photoprotection and medical interventions
- Liver Monitoring: Identifies patients requiring regular hepatic function assessment
Understanding Your Genetic Test Results
Your test results will provide detailed information about your ALAS2 gene status:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the ALAS2 gene, confirming the diagnosis of X-linked erythropoietic protoporphyria. This finding enables implementation of comprehensive management strategies, including strict sun protection, dietary modifications, and regular medical monitoring.
Negative Result Interpretation
A negative result suggests that no disease-causing mutations were detected in the ALAS2 gene. However, clinical correlation remains essential, as other forms of porphyria or photosensitivity disorders may require consideration.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance, requiring additional family studies and clinical correlation for proper interpretation.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ALAS2 Gene Protoporphyria Erythropoietic X-Linked NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Metabolic Genetics |
Pre-Test Requirements and Preparation
Before undergoing the ALAS2 Gene Protoporphyria test, patients must complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Detailed pedigree chart creation documenting family members affected with protoporphyria
- Informed consent process explaining test implications
Nationwide Testing Availability
We proudly offer the ALAS2 Gene Protoporphyria Erythropoietic X-Linked NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other locations nationwide.
Take Control of Your Genetic Health Today
Don’t let unexplained photosensitivity and potential genetic disorders remain undiagnosed. Our comprehensive ALAS2 genetic testing provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD (regularly $700 USD), advanced genetic testing is more accessible than ever.
Ready to schedule your genetic 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.
Take the first step toward understanding your genetic health and implementing effective management strategies for X-linked erythropoietic protoporphyria. Our certified genetic counselors and medical professionals are committed to providing personalized care and comprehensive support throughout your diagnostic journey.
