CEP152 Gene Seckel Syndrome Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Microcephalic Primordial Dwarfism
The CEP152 Gene Seckel Syndrome Type 5 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CEP152 gene, which are responsible for Seckel Syndrome Type 5. This rare autosomal recessive disorder falls under the category of microcephalic primordial dwarfism, characterized by severe prenatal and postnatal growth retardation, microcephaly, and distinctive facial features. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variants that contribute to this complex developmental condition.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the CEP152 gene located on chromosome 15q21.1, which encodes the centrosomal protein essential for proper cell division and brain development. The test utilizes state-of-the-art NGS technology to identify:
- Point mutations, insertions, and deletions in the CEP152 gene
- Compound heterozygous mutations affecting centrosome function
- Pathogenic variants disrupting centriole duplication and mitotic progression
- Genetic alterations leading to impaired neurogenesis and growth regulation
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Seckel Syndrome Type 5, including:
- Infants and children with severe intrauterine growth restriction
- Individuals exhibiting profound microcephaly (head circumference below 3rd percentile)
- Patients with characteristic “bird-like” facial features including prominent nose and receding chin
- Children experiencing significant developmental delays and intellectual disability
- Individuals with family history of primordial dwarfism or consanguineous parents
- Patients with skeletal abnormalities including clinodactyly and hip dysplasia
Key Benefits of Genetic Testing
Undergoing the CEP152 Gene Seckel Syndrome Type 5 NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms clinical suspicions and enables precise genetic counseling
- Family Planning: Provides crucial information for reproductive decision-making and prenatal testing options
- Medical Management: Guides appropriate interventions for growth monitoring and developmental support
- Prognostic Information: Helps establish realistic expectations for developmental outcomes
- Research Contribution: Contributes to scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your CEP152 gene analysis:
- Positive Result: Identification of pathogenic mutations confirms Seckel Syndrome Type 5 diagnosis, enabling targeted management strategies
- Negative Result: Absence of detectable CEP152 mutations suggests alternative genetic causes for clinical presentation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation for proper interpretation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
Test Pricing Information
| Test Description | Regular Price | Discount Price |
|---|---|---|
| CEP152 Gene Seckel Syndrome Type 5 NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories maintain the highest standards of quality and accuracy, ensuring reliable results for patients nationwide.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of Seckel Syndrome Type 5, don’t delay in seeking genetic answers. Our team of genetic counselors and medical specialists are ready to guide you through the testing process and provide comprehensive support. Contact us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment.
Important Pre-Test Instructions: Please bring complete clinical history documentation and be prepared for a genetic counseling session to create a detailed family pedigree chart documenting relatives affected by similar conditions.
Turnaround Time: 3-4 Weeks | Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
