RARS2 Gene Pontocerebellar Hypoplasia Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The RARS2 Gene Pontocerebellar Hypoplasia Type 6 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the RARS2 gene, which are responsible for pontocerebellar hypoplasia type 6—a rare and severe neurological condition affecting brain development.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the RARS2 gene, which encodes mitochondrial arginyl-tRNA synthetase. The test detects:
- Pathogenic variants and mutations in the RARS2 gene
- Single nucleotide polymorphisms (SNPs) associated with disease
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Novel variants with potential clinical significance
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Infants and children with developmental regression
- Microcephaly (abnormally small head size)
- Progressive neurological deterioration
- Seizures and epileptic episodes
- Abnormal muscle tone (hypotonia or hypertonia)
- Respiratory complications and breathing difficulties
- Family history of neurological disorders
- Unexplained developmental delays in early childhood
Key Benefits of RARS2 Genetic Testing
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted treatment approaches
- Prognostic Information: Offers insights into disease progression and expected outcomes
- Research Contribution: Contributes to ongoing neurological research and understanding
Understanding Your Test Results
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and neurologists. Results typically fall into these categories:
- Positive Result: Indicates the presence of pathogenic RARS2 mutations, confirming pontocerebellar hypoplasia type 6 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance (VUS): Genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene
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 laboratories ensure consistent, high-quality testing standards nationwide.
Take Action Today
Don’t wait to get the answers you need for proper neurological care and family planning. Our experienced genetic counselors are available to discuss your testing options and provide comprehensive support throughout the process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your RARS2 Gene Pontocerebellar Hypoplasia Type 6 NGS Genetic DNA Test and take the first step toward accurate diagnosis and informed healthcare decisions.
Note: Turnaround time for results is typically 3-4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on FTA card. Pre-test requirements include providing clinical history and participating in a genetic counseling session to create a detailed family pedigree chart.
