UBR1 Gene Johanson Blizzard Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Multisystem Disorder
The UBR1 Gene Johanson Blizzard Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the UBR1 gene, which is responsible for Johanson Blizzard Syndrome (JBS). This rare autosomal recessive disorder affects multiple organ systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced Next Generation Sequencing technology provides comprehensive analysis of the UBR1 gene, enabling healthcare providers to make informed clinical decisions and offer targeted interventions.
What Does This Test Measure and Detect?
This specialized genetic test utilizes Next Generation Sequencing (NGS) technology to thoroughly analyze the UBR1 gene for pathogenic variants associated with Johanson Blizzard Syndrome. The test specifically detects:
- Point mutations, insertions, and deletions in the UBR1 gene
- Autosomal recessive inheritance patterns
- Pathogenic variants affecting ubiquitin-protein ligase E3 function
- Genetic markers associated with pancreatic, hepatic, and endocrine dysfunction
- Mutations linked to characteristic facial features and developmental abnormalities
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with symptoms suggestive of Johanson Blizzard Syndrome, including:
- Infants and children with pancreatic insufficiency and malabsorption
- Patients exhibiting characteristic facial features (nasal alar hypoplasia, scalp defects)
- Individuals with growth retardation and developmental delays
- Patients with hepatic and renal abnormalities
- Those with endocrine disorders including hypothyroidism
- Individuals with hearing loss and dental abnormalities
- Family members of confirmed JBS patients for carrier testing
- Couples with family history planning pregnancy
Key Benefits of UBR1 Genetic Testing
Undergoing the UBR1 Gene Johanson Blizzard Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Johanson Blizzard Syndrome with high precision
- Early Intervention: Enables timely management of pancreatic insufficiency and nutritional support
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire UBR1 gene
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your UBR1 gene analysis:
- Positive Result: Identifies pathogenic variants confirming Johanson Blizzard Syndrome diagnosis, requiring multidisciplinary care management
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
All results are accompanied by detailed clinical interpretation and recommendations from our certified genetic counselors.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| UBR1 Gene Johanson Blizzard Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| UBR1 Gene Johanson Blizzard Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer the UBR1 Gene Johanson Blizzard Syndrome 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 many more locations nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your health decisions. Our UBR1 Gene Johanson Blizzard Syndrome NGS Genetic DNA Test provides the clarity and confidence you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic analysis, you can access world-class genetic testing without financial burden.
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.
Note: Turnaround time for results is 3-4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on FTA card. Pre-test requirements include clinical history documentation and genetic counseling session for pedigree analysis.
