IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss and Skeletal Dysplasia NGS Genetic DNA Test
Comprehensive Genetic Testing for Complex Multi-System Disorders
The IARS2 Gene NGS Genetic DNA Test represents a breakthrough in molecular diagnostics, offering comprehensive analysis of the IARS2 gene mutations associated with a complex constellation of medical conditions. This advanced genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to provide accurate detection of pathogenic variants in the IARS2 gene, which encodes mitochondrial isoleucyl-tRNA synthetase. This enzyme plays a critical role in mitochondrial protein synthesis, and its dysfunction leads to multisystem disorders affecting vision, growth, neurological function, hearing, and skeletal development.
What This Test Measures and Detects
Our comprehensive IARS2 gene analysis detects:
- Pathogenic mutations in the IARS2 gene associated with mitochondrial dysfunction
- Specific genetic variants responsible for early-onset cataracts
- Mutations linked to growth hormone deficiency and developmental delays
- Genetic markers for sensory neuropathy affecting peripheral nerves
- Variants associated with progressive sensorineural hearing loss
- Genetic factors contributing to skeletal dysplasia and bone abnormalities
Who Should Consider This Test
This comprehensive genetic test is recommended for individuals presenting with:
- Early-onset cataracts, particularly when occurring in childhood or adolescence
- Unexplained growth hormone deficiency or growth retardation
- Symptoms of sensory neuropathy including numbness, tingling, or pain in extremities
- Progressive hearing loss, especially sensorineural type
- Skeletal abnormalities or dysplasia affecting bone development
- Family history of similar multi-system disorders
- Unexplained combination of vision, growth, neurological, and skeletal symptoms
Clinical Benefits of IARS2 Genetic Testing
Undergoing IARS2 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out IARS2-related disorders with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management of associated conditions
- Comprehensive Care: Guides multidisciplinary approach involving ENT specialists, endocrinologists, and geneticists
Understanding Your Test Results
Our comprehensive genetic counseling support helps you understand your results:
- Positive Result: Indicates presence of pathogenic IARS2 mutations, confirming diagnosis and guiding treatment
- Negative Result: Suggests IARS2 mutations are not the cause of symptoms, directing further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional research and clinical correlation
- Carrier Status: Determines if you carry mutations that could affect future generations
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss and Skeletal Dysplasia NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and ENT specialists ensures comprehensive care and professional support throughout your testing journey.
Take Control of Your Health Today
Don’t let unexplained symptoms affect your quality of life. Our IARS2 genetic test provides the answers you need for accurate diagnosis and effective treatment planning. With our discounted price of $500 USD and comprehensive genetic counseling included, you’re making a valuable investment in your health future.
Ready to schedule your test? Call 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.
