EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with this rare but serious condition. Pontocerebellar hypoplasia type 1B is an autosomal recessive disorder characterized by progressive microcephaly, delayed psychomotor development, and early-onset neurological deterioration.
What This Advanced Genetic Test Detects
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the EXOSC3 gene to identify pathogenic variants responsible for pontocerebellar hypoplasia type 1B. The test specifically examines:
- Point mutations and small insertions/deletions in the EXOSC3 gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Genetic variations that disrupt the exosome complex formation
- Autosomal recessive inheritance patterns
- Carrier status identification for family members
Who Should Consider This Genetic Test
This comprehensive genetic analysis is recommended for individuals presenting with:
- Infants and children with progressive microcephaly
- Developmental delays in motor and cognitive functions
- Neurological symptoms including hypotonia and spasticity
- Family history of pontocerebellar hypoplasia or related disorders
- Unexplained neurological deterioration in early childhood
- Parents planning pregnancy with family history of neurological conditions
- Siblings of affected individuals for carrier testing
Significant Benefits of Early Genetic Diagnosis
Obtaining an accurate genetic diagnosis through our EXOSC3 testing provides numerous advantages:
- Early Intervention: Enables timely implementation of appropriate therapies and management strategies
- Prognostic Information: Helps families understand disease progression and expected outcomes
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Medical Management: Guides healthcare providers in developing targeted treatment plans
- Research Contribution: Advances scientific understanding of rare neurological disorders
- Psychological Relief: Reduces diagnostic uncertainty and provides closure for families
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies pathogenic mutations confirming diagnosis, enabling appropriate medical management and family counseling
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and clinical correlation
- Carrier Status: Identifies individuals carrying one copy of mutated gene for family planning purposes
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps.
Test Pricing and Availability
| Test Description | Price |
|---|---|
| EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test – Discount Price | $500 USD |
| EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test – Regular Price | $700 USD |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
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, San Jose, and many more. Our network ensures accessible genetic testing services for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neurological health journey.
Our genetic counseling team is available to discuss pre-test requirements, including clinical history documentation and family pedigree analysis to ensure comprehensive genetic assessment.
