CENPE Gene Microcephaly Autosomal Recessive Type 13 NGS Genetic DNA Test
Comprehensive Genetic Testing for Microcephaly
The CENPE Gene Microcephaly Autosomal Recessive Type 13 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 provide comprehensive analysis of the CENPE gene, which plays a critical role in proper brain development and cellular division.
What This Test Measures and Detects
This advanced genetic test specifically targets mutations in the CENPE (Centromere Protein E) gene, which is essential for proper chromosome segregation during cell division. The test detects:
- Pathogenic variants in the CENPE gene associated with autosomal recessive microcephaly type 13
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the CENPE gene region
- Compound heterozygous or homozygous mutations causing the condition
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 related neurological conditions
- Parents planning pregnancy with known family history of microcephaly
- Children with unexplained neurological symptoms and small head size
- Individuals with dysmorphic features alongside microcephaly
Key Benefits of Genetic Testing
Undergoing the CENPE Gene Microcephaly test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of microcephaly
- Family Planning Guidance: Helps assess recurrence risks for future pregnancies
- Personalized Medical Management: Enables targeted interventions and therapies
- Early Intervention Opportunities: Facilitates timely developmental support
- Genetic Counseling Foundation: Provides essential information for family genetic counseling
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and presented with comprehensive explanations:
- Positive Result: Indicates the presence of pathogenic mutations in the CENPE gene, confirming the diagnosis of autosomal recessive microcephaly type 13
- Negative Result: Suggests no mutations were detected in the CENPE gene, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive the highest quality care regardless of your location.
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of family members affected with microcephaly or related conditions
- Referral from your primary care physician or pediatrician
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our CENPE Gene Microcephaly Autosomal Recessive Type 13 NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our advanced NGS technology and expert genetic analysis, you can trust the accuracy and reliability of your results.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
