RBPJ Gene Adams-Oliver Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Congenital Disorders
The RBPJ Gene Adams-Oliver Syndrome Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare congenital conditions. This advanced testing methodology provides crucial insights into genetic mutations affecting multiple body systems, enabling accurate diagnosis and personalized treatment approaches for patients and families affected by this complex disorder.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically targets the RBPJ (Recombination Signal Binding Protein for Immunoglobulin Kappa J Region) gene, which plays a critical role in the Notch signaling pathway. This pathway is essential for proper embryonic development, particularly in the formation of:
- Limb development and skeletal structure
- Scalp and skin formation
- Vascular system development
- Immune system regulation
- Cardiac and neurological development
The test identifies pathogenic variants, including missense mutations, nonsense mutations, frameshift mutations, and splice-site variants that disrupt normal gene function and lead to Adams-Oliver Syndrome type 3 manifestations.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following clinical features:
- Congenital Limb Abnormalities: Terminal transverse limb defects, missing fingers or toes, syndactyly
- Scalp Defects: Aplasia cutis congenita, scalp lesions, or abnormal hair patterns
- Vascular Anomalies: Cutis marmorata telangiectatica congenita, vascular malformations
- Family History: Individuals with family members diagnosed with Adams-Oliver Syndrome
- Unexplained Developmental Delays: Particularly when combined with physical abnormalities
- Prenatal Concerns: When ultrasound reveals limb or scalp abnormalities
Clinical Benefits of Genetic Testing
Undergoing the RBPJ Gene Adams-Oliver Syndrome Type 3 test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Adams-Oliver Syndrome type 3 with high precision
- Personalized Treatment Planning: Enables targeted interventions based on specific genetic findings
- Family Planning Guidance: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates proactive management of potential complications
- Comprehensive Care Coordination: Connects patients with appropriate specialists including dermatologists, orthopedic surgeons, and genetic counselors
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic RBPJ gene mutation, confirming Adams-Oliver Syndrome type 3 diagnosis
- Negative Result: Suggests that RBPJ gene mutations are not detected, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations for next steps from our certified genetic counselors.
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 Testing Accessibility
We proudly serve patients across the United States with convenient testing 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 this specialized genetic testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our expert team of genetic specialists, dermatologists, and counselors are ready to provide comprehensive support throughout your testing journey. Contact us today to schedule your RBPJ Gene Adams-Oliver Syndrome Type 3 NGS Genetic DNA Test and take control of your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or request more information about this essential genetic screening.
