NGS Sequencing Ataxia-Telangiectasia Test
Comprehensive Genetic Analysis for Neurological Disorders
The NGS Sequencing Ataxia-Telangiectasia Test represents a breakthrough in genetic diagnostics for neurological conditions. This advanced molecular test utilizes cutting-edge next-generation sequencing technology to identify mutations in the ATM gene, which is responsible for Ataxia-Telangiectasia (A-T), a rare autosomal recessive disorder affecting multiple body systems.
What Does This Test Measure?
This comprehensive genetic screening specifically targets the ATM (Ataxia-Telangiectasia Mutated) gene, which plays a critical role in DNA repair and cell cycle regulation. The test detects:
- Pathogenic variants in the ATM gene
- Missense, nonsense, and frameshift mutations
- Copy number variations and large deletions
- Splice site mutations affecting gene function
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Progressive cerebellar ataxia beginning in early childhood
- Oculomotor apraxia and abnormal eye movements
- Telangiectasia (dilated blood vessels) in the eyes and skin
- Recurrent sinopulmonary infections
- Increased sensitivity to ionizing radiation
- Family history of Ataxia-Telangiectasia
- Unexplained neurological symptoms in childhood
Key Benefits of Testing
Undergoing the NGS Sequencing Ataxia-Telangiectasia Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out A-T with high precision
- Early Intervention: Enables timely management of symptoms
- Family Planning: Provides crucial information for genetic counseling
- Personalized Care: Guides appropriate medical management strategies
- Cancer Risk Assessment: Identifies increased susceptibility to malignancies
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert molecular geneticists:
- Positive Result: Indicates the presence of pathogenic ATM mutations confirming A-T diagnosis
- Negative Result: Suggests absence of known ATM mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with one mutated ATM gene copy
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $586 |
| Regular Price | $650 |
Sample Requirements and Processing
For optimal testing accuracy, please ensure proper sample collection:
- Sample Type: 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes
- Shipping: Refrigerated transport required – DO NOT FREEZE
- Turnaround Time: Sample processing daily by 9 AM; Reports in 40 working days
- Mandatory Documentation: Duly filled Whole Exome Sequencing Consent Form (Form 37)
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, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Neurological Health
Don’t let unexplained neurological symptoms go undiagnosed. The NGS Sequencing Ataxia-Telangiectasia Test provides the clarity needed for proper medical management and family planning decisions. Our team of genetic counselors and neurologists are available to discuss your results and provide comprehensive guidance.
Ready to schedule your genetic test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
