CENPJ Gene Microcephaly Autosomal Recessive Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Primary Microcephaly
The CENPJ Gene Microcephaly Autosomal Recessive Type 6 NGS Genetic DNA Test represents a cutting-edge diagnostic tool for identifying mutations in the CENPJ gene, which plays a critical role in brain development and neuronal proliferation. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the CENPJ gene, offering families and healthcare providers definitive answers about the genetic basis of primary microcephaly.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the CENPJ (centromere protein J) gene, which encodes a protein essential for centriole duplication and proper cell division during brain development. The test detects:
- Pathogenic variants and mutations in the CENPJ gene
- Autosomal recessive inheritance patterns
- Specific genetic alterations causing MCPH6 (Microcephaly Primary Hereditary Type 6)
- Novel and known variants affecting centriole function
- Genetic markers associated with impaired neuronal production
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following clinical indications:
- Infants or children with significantly reduced head circumference (more than 2-3 standard deviations below age and sex norms)
- Individuals with developmental delays and intellectual disability
- Patients with simplified gyral patterns on brain imaging
- Families with a history of primary microcephaly
- Couples with consanguineous relationships planning pregnancy
- Individuals from ethnic backgrounds with higher prevalence of autosomal recessive disorders
- Patients with normal brain structure but reduced brain size
Clinical Benefits of CENPJ Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out CENPJ-related microcephaly with high accuracy
- Family Planning Guidance: Provides recurrence risk information for future pregnancies
- Medical Management: Helps guide appropriate interventions and support services
- Early Intervention: Enables timely implementation of developmental therapies
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Advances understanding of neurodevelopmental disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in both copies of the CENPJ gene, confirming the diagnosis of autosomal recessive microcephaly type 6
- Negative Result: Suggests that CENPJ gene mutations are not the cause of the microcephaly, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Detects individuals with one mutated copy who are typically unaffected but can pass the condition to offspring
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| CENPJ Gene Microcephaly Autosomal Recessive Type 6 NGS Genetic DNA Test – Discount Price | $500 |
| CENPJ Gene Microcephaly Autosomal Recessive Type 6 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including 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 results regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms of microcephaly or have a family history of neurodevelopmental disorders, the CENPJ Gene Microcephaly Test can provide the answers you need. Our genetic counseling team is available to discuss your concerns and guide you through the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate specialists are ready to help you navigate this important diagnostic journey with expertise and care.
Remember: Early genetic diagnosis can significantly impact treatment planning and family management strategies. Don’t wait to get the genetic information that could change your family’s healthcare trajectory.
