CDK5RAP2 Gene Microcephaly Autosomal Recessive Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Primary Microcephaly
The CDK5RAP2 Gene Microcephaly Autosomal Recessive Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological disorders. This specialized test focuses on identifying mutations in the CDK5RAP2 gene, which plays a critical role in brain development and neuronal proliferation. Primary microcephaly type 3 is a rare neurodevelopmental condition characterized by significantly reduced head circumference at birth, often accompanied by intellectual disability and developmental delays.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based analysis specifically targets:
- Pathogenic variants in the CDK5RAP2 gene located on chromosome 9q33.2
- Autosomal recessive inheritance patterns through carrier detection
- Single nucleotide variants, insertions, deletions, and copy number variations
- Mutations affecting centrosomal function and neuronal progenitor cell division
- Genetic markers associated with impaired cerebral cortex development
Who Should Consider This Genetic Test?
This specialized genetic assessment is recommended for individuals presenting with:
- Significantly reduced head circumference at birth (≥2 standard deviations below mean)
- Family history of primary microcephaly or consanguineous parents
- Developmental delays in motor skills, speech, and cognitive functions
- Neurological symptoms including seizures or movement disorders
- Previous inconclusive genetic testing for microcephaly
- Couples planning pregnancy with family history of neurological disorders
Clinical Indications and Diagnostic Importance
The CDK5RAP2 gene encodes a crucial protein involved in centrosome function and mitotic spindle formation during neuronal development. Mutations disrupt normal brain growth by impairing symmetric cell division in neural progenitor cells, leading to reduced neuronal production and smaller brain size. Early genetic diagnosis enables:
- Accurate differential diagnosis from other microcephaly types
- Personalized developmental intervention strategies
- Informed family planning decisions through carrier testing
- Comprehensive multidisciplinary care coordination
Significant Benefits of Genetic Testing
Undergoing the CDK5RAP2 genetic test provides numerous advantages:
- Definitive Diagnosis: Confirms clinical suspicion with molecular evidence
- Family Planning Guidance: Identifies carrier status for reproductive decisions
- Early Intervention: Enables timely developmental support services
- Prognostic Information: Helps anticipate potential developmental trajectories
- Research Contribution: Advances understanding of rare genetic disorders
- Psychological Relief: Provides answers for families seeking explanations
Understanding Your Genetic Test Results
Our comprehensive genetic counseling support helps interpret your results:
- Positive Result: Confirms CDK5RAP2-related microcephaly diagnosis
- Negative Result: Suggests alternative genetic causes for microcephaly
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Identifies individuals with one mutated copy
All results include detailed explanations and recommendations for next steps, including referrals to specialists in neurodevelopmental disorders and genetic counseling services.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | CDK5RAP2 Gene Microcephaly Autosomal Recessive Type 3 NGS Genetic DNA Test | – |
| Discount Price | Limited time offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | 3-4 weeks | – |
| Sample Type | Blood, Extracted DNA, or One drop Blood on FTA Card | – |
Pre-Test Requirements and Preparation
Before scheduling your genetic test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process explaining benefits and limitations
- Coordination with referring physician for comprehensive care
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified genetic counselors and specialized pediatric neurologists ensures comprehensive care coordination.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized CDK5RAP2 genetic testing provides the answers you need for informed medical decisions and family planning. With advanced NGS technology and expert genetic counseling support, we deliver accurate, reliable results you can trust.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book the CDK5RAP2 Gene Microcephaly Autosomal Recessive Type 3 NGS Genetic DNA Test. Our compassionate team is ready to guide you through every step of the genetic testing process.
