ASPM Gene Microcephaly Autosomal Recessive Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Microcephaly Diagnosis
The ASPM Gene Microcephaly Autosomal Recessive Type 5 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological disorders. This specialized test focuses on identifying mutations in the ASPM (Abnormal Spindle-like Microcephaly-associated) gene, which plays a critical role in brain development and neuronal proliferation. Primary microcephaly type 5 is a rare autosomal recessive condition characterized by significantly reduced head circumference at birth, intellectual disability, and developmental delays.
What Does This Test Measure and Detect?
Our advanced NGS-based genetic test specifically targets:
- Complete sequencing of the ASPM gene to identify pathogenic variants
- Detection of single nucleotide variants (SNVs) and small insertions/deletions
- Identification of mutations affecting brain development and neuronal migration
- Analysis of genetic changes responsible for primary microcephaly type 5
- Comprehensive coverage of all coding regions and splice sites
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Congenital microcephaly (head circumference below 3rd percentile)
- Developmental delays and intellectual disability
- Family history of primary microcephaly
- Neurological symptoms without clear diagnosis
- Parents planning pregnancy with family history of microcephaly
- Children with unexplained developmental regression
Key Benefits of ASPM Gene Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of primary microcephaly type 5
- Family Planning: Enables informed reproductive decisions for at-risk couples
- Prognostic Information: Helps predict disease progression and potential complications
- Treatment Guidance: Supports development of personalized management strategies
- Genetic Counseling: Facilitates comprehensive family risk assessment
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic ASPM gene mutations confirming diagnosis
- Negative Result: Suggests ASPM gene mutations are not the cause of symptoms
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Identifies individuals with single mutation copies who may pass condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ASPM Gene Microcephaly Autosomal Recessive Type 5 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) Technology |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving 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 testing regardless of your location.
Take Action Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our comprehensive ASPM gene testing provides the clarity needed for informed healthcare decisions. Contact our genetic counselors today to schedule your test and begin your journey toward genetic clarity.
Call or WhatsApp us now at +1(267) 388-9828 to book your ASPM Gene Microcephaly Autosomal Recessive Type 5 NGS Genetic DNA Test and take the first step toward genetic understanding and peace of mind.
