CEP135 Gene Microcephaly Autosomal Recessive Type 8 NGS Genetic DNA Test
Comprehensive Genetic Testing for Microcephaly
The CEP135 Gene Microcephaly Autosomal Recessive Type 8 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with microcephaly, a neurological condition characterized by significantly smaller head size than expected for age and sex. This specialized test utilizes next-generation sequencing (NGS) technology to analyze the CEP135 gene, which plays a critical role in centrosome function and proper brain development during embryonic growth.
What This Test Measures and Detects
This advanced genetic test specifically targets mutations in the CEP135 gene located on chromosome 4. The test identifies:
- Pathogenic variants in the CEP135 gene associated with autosomal recessive microcephaly type 8
- Single nucleotide polymorphisms (SNPs) affecting centrosome protein 135 function
- Deletions, insertions, and point mutations disrupting normal gene expression
- Genetic variations that impair centrosome duplication and mitotic spindle formation
- Mutations leading to impaired neuronal progenitor cell division
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Significantly reduced head circumference at birth or during infancy
- Developmental delays and intellectual disability
- Family history of microcephaly or consanguineous parents
- Previous children with microcephaly or neurological disorders
- Abnormal brain imaging findings suggestive of microcephaly
- Parents planning pregnancy with family history of neurological conditions
- Unexplained developmental regression in early childhood
Key Benefits of Genetic Testing
Undergoing the CEP135 Gene Microcephaly test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of microcephaly
- Family Planning Guidance: Provides essential information for future reproductive decisions
- Personalized Medical Management: Enables targeted treatment and intervention strategies
- Early Intervention: Facilitates timely developmental support and therapies
- Genetic Counseling: Offers comprehensive risk assessment for family members
- Research Contribution: Helps advance understanding of microcephaly genetics
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Indicates the presence of pathogenic mutations in the CEP135 gene, confirming the diagnosis of autosomal recessive microcephaly type 8
- Negative Result: Suggests no mutations were detected in the CEP135 gene, though other genetic causes of microcephaly may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring further evaluation and possibly family studies
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located testing centers 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 genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms of microcephaly or have a family history of neurological conditions, don’t wait to get the answers you need. Our comprehensive CEP135 Gene Microcephaly Autosomal Recessive Type 8 NGS Genetic DNA Test provides the definitive genetic information required for proper diagnosis and management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Remember: Early genetic diagnosis can significantly impact treatment outcomes and provide valuable information for family planning decisions. Take control of your genetic health today with our advanced NGS testing technology.
