UROS Gene Porphyria Congenital Erythropoietic NGS Genetic DNA Test
Comprehensive Genetic Analysis for Congenital Erythropoietic Porphyria
The UROS Gene Porphyria Congenital Erythropoietic NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced testing methodology utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of the UROS gene, which plays a critical role in heme biosynthesis. Congenital erythropoietic porphyria (CEP), also known as Günther disease, is an autosomal recessive disorder characterized by deficient uroporphyrinogen III synthase activity, leading to accumulation of porphyrins in bone marrow, red blood cells, and other tissues.
What This Test Measures and Detects
Our NGS-based genetic test specifically targets the UROS gene located on chromosome 10q25.2-q26.3, which encodes the enzyme uroporphyrinogen III synthase. The test identifies:
- Point mutations, insertions, and deletions in the UROS gene
- Pathogenic variants associated with congenital erythropoietic porphyria
- Carrier status for autosomal recessive inheritance patterns
- Specific mutation types including missense, nonsense, and splice-site variants
- Compound heterozygosity and homozygous mutations
The test achieves 99.9% analytical sensitivity and specificity, covering all coding regions and flanking intronic sequences of the UROS gene to ensure comprehensive variant detection.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following clinical manifestations:
- Severe Photosensitivity: Extreme skin reactions to sunlight exposure
- Cutaneous Symptoms: Skin fragility, blistering, and scarring
- Urinary Abnormalities: Pink or reddish-brown urine discoloration
- Hematological Issues: Hemolytic anemia and splenomegaly
- Dental Manifestations: Erythrodontia (reddish-brown teeth)
- Hypertrichosis: Excessive hair growth on face and extremities
- Family History: Known cases of porphyria in relatives
- Unexplained Neonatal Symptoms: Jaundice, anemia, or photosensitivity in infants
Clinical Benefits and Advantages
Choosing our UROS Gene Porphyria Congenital Erythropoietic NGS Genetic DNA Test provides numerous clinical benefits:
- Definitive Diagnosis: Confirms or rules out congenital erythropoietic porphyria with high accuracy
- Early Intervention: Enables prompt management strategies to prevent complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides appropriate therapeutic approaches based on genetic findings
- Carrier Detection: Identifies asymptomatic carriers within families
- Prognostic Information: Helps predict disease severity and progression
- Differential Diagnosis: Distinguishes CEP from other types of porphyria and photosensitivity disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation and clinical guidance:
- Positive Result: Identification of pathogenic mutations confirms congenital erythropoietic porphyria diagnosis. Our genetic counselors provide personalized management recommendations including sun protection strategies, hematological monitoring, and potential treatment options.
- Negative Result: No pathogenic variants detected significantly reduces the likelihood of CEP, though clinical correlation remains essential.
- Variant of Uncertain Significance (VUS): Rare genetic changes with unclear clinical impact require additional family studies and periodic re-evaluation.
- Carrier Status: Identification of a single pathogenic mutation indicates carrier status with 25% risk of affected offspring when both parents are carriers.
All results are accompanied by detailed genetic counseling sessions to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Accessibility and Convenience
GGC DNA maintains comprehensive testing facilities 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. Our network of certified collection centers ensures easy access to testing services regardless of your location.
Pre-Test Requirements and Preparation
To ensure optimal testing accuracy and clinical relevance, we require:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Detailed pedigree chart of family members affected with porphyria
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Our dedicated genetic counselors are available to assist with all pre-test requirements and answer any questions about the testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about congenital erythropoietic porphyria affect your quality of life. Our UROS Gene Porphyria Congenital Erythropoietic NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. With our special discounted price of $500 USD (regularly $700), comprehensive genetic analysis has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through every step of the process and provide the clarity you deserve for your genetic health journey.
