QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurological Disorders
The QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare genetic mutations associated with severe neurological conditions. This specialized test focuses on the QARS1 gene, which plays a critical role in protein synthesis and neurological development. Mutations in this gene can lead to progressive microcephaly, treatment-resistant seizures, and significant brain atrophy affecting both cerebral and cerebellar regions.
What This Test Measures and Detects
Our advanced Next-Generation Sequencing (NGS) technology comprehensively analyzes the QARS1 gene to identify:
- Pathogenic variants and mutations in the QARS1 gene
- Single nucleotide polymorphisms (SNPs) associated with neurological disorders
- Copy number variations affecting gene function
- Inheritance patterns (autosomal recessive)
- Specific genetic markers linked to progressive microcephaly and seizure disorders
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Progressive microcephaly (decreasing head circumference)
- Early-onset seizures that are resistant to standard treatments
- Developmental delays and regression
- Cerebral and cerebellar atrophy visible on brain imaging
- Family history of similar neurological conditions
- Infants with abnormal neurological development
- Children with dysmorphic features and neurological symptoms
Key Benefits of QARS1 Genetic Testing
- Early Diagnosis: Enables prompt intervention and management strategies
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Information: Helps understand disease progression and outcomes
- Research Contribution: Advances understanding of rare genetic disorders
- Peace of Mind: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Our comprehensive genetic counseling service helps interpret your results:
- Positive Result: Indicates presence of QARS1 gene mutation, confirming diagnosis and enabling targeted management
- Negative Result: Suggests absence of tested mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires further analysis and possibly family studies
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Diagnosis
If you or your child are experiencing symptoms suggestive of QARS1-related disorders, don’t delay in seeking genetic testing. Early diagnosis can significantly impact treatment outcomes and quality of life. Our genetic counselors are available to discuss your concerns and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your QARS1 genetic test or to speak with our genetic specialists. Take control of your neurological health with comprehensive genetic testing from America’s leading diagnostic provider.
