ALAS2 Gene Protoporphyria Erythropoietic X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Erythropoietic Protoporphyria
The ALAS2 Gene Protoporphyria Erythropoietic X-Linked NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare hematological disorders. This advanced test specifically targets mutations in the ALAS2 gene, which encodes the erythroid-specific form of aminolevulinic acid synthase, a crucial enzyme in heme biosynthesis. When this gene malfunctions, it leads to X-linked erythropoietic protoporphyria (XLEPP), a condition characterized by abnormal accumulation of protoporphyrin in red blood cells, plasma, and tissues.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the ALAS2 gene to identify:
- Point mutations affecting enzyme function
- Deletions and insertions in the genetic sequence
- Missense mutations altering protein structure
- Nonsense mutations causing premature stop codons
- Splice site variants affecting RNA processing
The test specifically detects genetic abnormalities that disrupt the normal regulation of heme synthesis in erythroid cells, leading to excessive protoporphyrin IX accumulation. This comprehensive analysis provides definitive molecular diagnosis for X-linked protoporphyria, distinguishing it from other forms of porphyria.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Unexplained photosensitivity reactions to sunlight
- Burning, stinging, or itching sensations after sun exposure
- Recurrent abdominal pain without clear cause
- Family history of protoporphyria or similar symptoms
- Elevated protoporphyrin levels in blood tests
- Unexplained liver function abnormalities
- Children with unusual reactions to light exposure
Additionally, family members of diagnosed individuals should consider testing for carrier status and genetic counseling purposes.
Key Benefits of ALAS2 Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of X-linked erythropoietic protoporphyria
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely management strategies to prevent complications
- Treatment Guidance: Helps hematologists develop targeted treatment plans
- Risk Assessment: Identifies at-risk family members before symptom onset
- Differential Diagnosis: Distinguishes XLEPP from other porphyria types
Understanding Your Test Results
Your genetic test results will provide clear interpretation of the ALAS2 gene analysis:
- Positive Result: Indicates presence of pathogenic mutation(s) in the ALAS2 gene, confirming diagnosis of X-linked erythropoietic protoporphyria
- Negative Result: No disease-causing mutations detected in the ALAS2 gene
- Variant of Uncertain Significance: Genetic changes identified require further clinical correlation
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms
All results include comprehensive genetic counseling to help you understand the implications for your health and family. Our genetic specialists will explain the inheritance pattern, recurrence risks, and management recommendations based on your specific results.
Test Pricing and Details
| 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 |
| Methodology | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history documenting symptoms and family background
- Scheduled genetic counseling session to create detailed family pedigree
- Understanding of test implications and potential outcomes
- Appropriate medical referral if required by your insurance
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible testing wherever you are located.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our ALAS2 Gene Protoporphyria Erythropoietic X-Linked NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. With our discounted price of $500 USD (regularly $700), comprehensive genetic counseling, and rapid 3-4 week turnaround, you can make informed decisions about your health and future.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care.
