PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Primordial Dwarfism
The PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD II) NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the PCNT (pericentrin) gene. This specialized genetic test utilizes advanced Next-Generation Sequencing technology to provide comprehensive analysis of the PCNT gene, which plays a critical role in centrosome function and cellular division. MOPD II is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, microcephaly, and distinctive skeletal abnormalities.
What Does This Test Detect?
This comprehensive genetic test specifically targets and analyzes the PCNT gene to identify pathogenic variants associated with Microcephalic Osteodysplastic Primordial Dwarfism Type 2. The test detects:
- Point mutations in the PCNT gene coding regions
- Small insertions and deletions affecting gene function
- Splice site mutations that disrupt normal protein production
- Compound heterozygous or homozygous mutations
- Novel variants of uncertain significance requiring further interpretation
Clinical Significance of PCNT Gene Mutations
The PCNT gene encodes pericentrin, a crucial centrosomal protein essential for proper mitotic spindle formation and chromosome segregation during cell division. Mutations in this gene disrupt normal centrosome function, leading to impaired cell proliferation and the characteristic features of MOPD II, including extreme growth restriction and microcephaly.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of Microcephalic Osteodysplastic Primordial Dwarfism Type 2, including:
- Severe intrauterine growth restriction and postnatal growth failure
- Proportionate dwarfism with adult height typically under 100 cm
- Significant microcephaly (head circumference below -9 SD)
- Characteristic facial features including prominent nose and small jaw
- Skeletal abnormalities such as hip dysplasia and scoliosis
- Developmental delays and intellectual disability of varying severity
- Family history of primordial dwarfism or consanguineous parents
Early Diagnosis Benefits
Early genetic testing enables timely intervention and appropriate medical management, including growth monitoring, developmental support, and anticipatory guidance for potential complications such as cerebrovascular abnormalities and insulin resistance.
Key Benefits of PCNT Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of MOPD II, distinguishing it from other forms of primordial dwarfism
- Family Planning Guidance: Enables carrier testing and recurrence risk assessment for family members
- Personalized Medical Management: Informs targeted surveillance for associated complications
- Genetic Counseling Support: Facilitates comprehensive genetic counseling based on specific mutation findings
- Research Contribution: Contributes to ongoing research and understanding of rare genetic disorders
Understanding Your Test Results
Test results are carefully interpreted by our team of certified geneticists and molecular pathologists. Your report will include:
- Positive Result: Identification of pathogenic mutations confirms MOPD II diagnosis and enables targeted management
- Negative Result: Absence of detectable PCNT mutations suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Novel genetic changes requiring additional family studies for interpretation
- Carrier Status: Identification of single mutation carriers with implications for family planning
Post-Test Genetic Counseling
All positive results include comprehensive genetic counseling to discuss implications for the patient and family members, recurrence risks, and available management options.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
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, and San Jose. Our network of certified genetic counselors and phlebotomists ensures accessible testing and comprehensive support throughout the diagnostic process.
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Take the Next Step Toward Diagnosis
If you or your child are experiencing symptoms suggestive of Microcephalic Osteodysplastic Primordial Dwarfism Type 2, don’t delay in seeking genetic testing. Early diagnosis can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to guide you through the testing process and provide the answers you need.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book the PCNT Gene Test. Our genetic counselors are available to answer your questions and help you understand the testing process, benefits, and what to expect from your results.
With our comprehensive NGS technology and expert interpretation, you can trust General Genetics Corporation to provide accurate, reliable genetic testing for rare disorders like MOPD II. Take control of your genetic health journey today.
