POLR3A Gene Leukodystrophy Hypomyelinating Type 7 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The POLR3A Gene Leukodystrophy Hypomyelinating Type 7 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the POLR3A gene, which plays a critical role in RNA polymerase III function and myelin formation in the central nervous system. Hypomyelinating leukodystrophy type 7 is a rare genetic disorder characterized by insufficient myelin production, leading to progressive neurological deterioration and significant developmental challenges.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology enables comprehensive analysis of the POLR3A gene to identify:
- Pathogenic variants and mutations in the POLR3A gene
- Single nucleotide polymorphisms (SNPs) associated with leukodystrophy
- Copy number variations affecting gene function
- Inheritance patterns for family planning purposes
- Specific genetic markers linked to hypomyelination disorders
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of hypomyelinating leukodystrophy, including:
- Infants and children with delayed motor development milestones
- Individuals experiencing progressive neurological deterioration
- Patients with abnormal white matter findings on brain MRI scans
- Family members of individuals diagnosed with POLR3A-related disorders
- Those with unexplained ataxia, spasticity, or movement disorders
- Children showing signs of developmental regression
Significant Benefits of Genetic Testing
Undergoing the POLR3A gene test provides numerous advantages for patients and families:
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted treatment approaches
- Prognostic Information: Offers insights into disease progression and outcomes
- Genetic Counseling: Supports families in understanding inheritance patterns
- Research Contribution: Advances scientific understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help interpret your POLR3A gene test results:
- Positive Result: Indicates the presence of pathogenic variants requiring specialized neurological care
- Negative Result: Suggests absence of tested POLR3A mutations but may require additional testing
- Variant of Uncertain Significance: Requires ongoing monitoring and possibly family studies
- Carrier Status: Important information for family planning and genetic counseling
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | POLR3A Gene Leukodystrophy Hypomyelinating Type 7 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 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 network of certified genetic counselors and neurological specialists ensures comprehensive care and support throughout the testing process.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of hypomyelinating leukodystrophy, don’t delay in seeking answers. Our POLR3A gene test provides the clarity needed for proper diagnosis and management. Contact our genetic counseling team today to schedule your test and begin your journey toward understanding.
Call or WhatsApp our genetic specialists at +1(267) 388-9828 to book your POLR3A Gene Leukodystrophy Hypomyelinating Type 7 NGS Genetic DNA Test today. Early diagnosis can make a significant difference in managing neurological conditions and planning for the future.
