NOTCH2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Alagille Syndrome Type 2
The NOTCH2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for individuals and families affected by complex multi-system disorders. This specialized test utilizes state-of-the-art Next-Generation Sequencing (NGS) technology to provide definitive genetic confirmation of Alagille Syndrome Type 2, enabling healthcare providers to deliver targeted medical care and comprehensive family counseling.
What is Alagille Syndrome Type 2?
Alagille Syndrome Type 2 is a rare autosomal dominant genetic disorder characterized by abnormalities affecting multiple organ systems, particularly the liver, heart, eyes, and skeletal system. This condition results from mutations in the NOTCH2 gene, which plays a crucial role in embryonic development and cellular differentiation. The NOTCH signaling pathway is essential for proper organ formation, and disruptions in this pathway lead to the characteristic features of Alagille Syndrome.
What the Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically targets the NOTCH2 gene to identify pathogenic variants responsible for Alagille Syndrome Type 2. The test provides comprehensive analysis of:
- Point mutations and small insertions/deletions in the NOTCH2 gene
- Copy number variations affecting gene function
- Pathogenic variants disrupting the NOTCH signaling pathway
- Genetic markers associated with disease severity and progression
The test employs cutting-edge Next-Generation Sequencing technology, ensuring high sensitivity and specificity in detecting even rare genetic variants that might be missed by conventional testing methods.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with one or more of the following clinical features:
- Liver Abnormalities: Chronic cholestasis, bile duct paucity, elevated liver enzymes, or unexplained liver dysfunction
- Cardiac Issues: Congenital heart defects, particularly peripheral pulmonary stenosis or tetralogy of Fallot
- Ocular Findings: Posterior embryotoxon, optic nerve abnormalities, or other anterior segment defects
- Skeletal Features: Butterfly vertebrae, shortened digits, or other vertebral anomalies
- Characteristic Facial Features: Broad forehead, deep-set eyes, and pointed chin
- Family History: Individuals with family members diagnosed with Alagille Syndrome or related genetic conditions
Benefits of Taking the NOTCH2 Genetic Test
Undergoing genetic testing for Alagille Syndrome Type 2 provides numerous advantages for patients and their families:
- Definitive Diagnosis: Obtain conclusive genetic confirmation to guide appropriate medical management
- Personalized Treatment: Enable targeted interventions based on specific genetic findings
- Family Planning: Provide accurate recurrence risk information for future pregnancies
- Early Intervention: Facilitate proactive monitoring and management of potential complications
- Genetic Counseling: Support informed decision-making regarding reproductive options
- Research Participation: Contribute to ongoing studies that may benefit future patients
Understanding Your Test Results
Interpreting Genetic Findings
Our comprehensive genetic report provides detailed analysis and interpretation of your NOTCH2 gene sequencing results:
- Positive Result: Identification of a pathogenic variant confirms the diagnosis of Alagille Syndrome Type 2 and enables appropriate medical follow-up and family screening
- Negative Result: Absence of detectable NOTCH2 mutations suggests alternative diagnoses should be considered, though does not completely rule out the condition
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis to determine clinical significance
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps. Our team of certified genetic counselors is available to discuss your results and provide personalized recommendations.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | NOTCH2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Pediatrics |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Dysmorphology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend the following pre-test preparations:
- Complete clinical history documentation of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart of family members affected by NOTCH2-related conditions
- Discussion of test implications, benefits, and limitations with a qualified genetic counselor
- Informed consent process outlining the potential outcomes and their significance
Nationwide Testing Availability
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 accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our NOTCH2 Gene Alagille Syndrome Type 2 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your genetic health.
Call us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take control of your genetic health and make informed decisions for your future.
Our dedicated team of genetic specialists is ready to assist you with testing coordination, insurance inquiries, and result interpretation. Contact us now to begin your journey toward genetic clarity and personalized medical care.
