CDK6 Gene Microcephaly Autosomal Recessive Type 12 NGS Genetic DNA Test
Comprehensive Genetic Testing for Microcephaly Diagnosis
The CDK6 Gene Microcephaly Autosomal Recessive Type 12 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CDK6 gene that cause autosomal recessive microcephaly type 12. This neurological condition is characterized by significantly reduced head circumference and associated developmental challenges. Our advanced genetic testing provides families and healthcare providers with definitive diagnostic information crucial for proper medical management and family planning decisions.
What This Test Measures and Detects
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the CDK6 gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the CDK6 gene
- Autosomal recessive inheritance patterns
- Variants associated with primary microcephaly type 12
- Genetic markers that affect brain development and neuronal proliferation
Advanced NGS Technology
Our state-of-the-art NGS platform provides high-resolution analysis of the entire CDK6 gene coding region, including exons, intron-exon boundaries, and known regulatory elements. This comprehensive approach ensures maximum detection sensitivity for various mutation types that could disrupt normal CDK6 protein function in cell cycle regulation.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with clinical features suggestive of CDK6-related microcephaly, including:
- Infants and children with significantly small head circumference (below 3rd percentile)
- Individuals with developmental delays and intellectual disability
- Patients with neurological abnormalities without clear etiology
- Families with history of consanguineous marriages
- Individuals with affected siblings or family history of microcephaly
- Couples planning pregnancy with known family history of neurological disorders
Clinical Indications and Symptoms
The CDK6 Gene Microcephaly test is particularly indicated when patients exhibit:
- Progressive microcephaly developing postnatally
- Moderate to severe intellectual disability
- Delayed motor milestones and speech development
- Simplified gyral pattern on brain imaging
- Absence of other syndromic features
Benefits of CDK6 Genetic Testing
Undergoing CDK6 genetic testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out CDK6-related microcephaly with high accuracy
- Family Planning Guidance: Provides recurrence risk information for future pregnancies
- Medical Management: Enables targeted interventions and appropriate medical care
- Early Intervention: Facilitates timely developmental support and educational planning
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Advances understanding of microcephaly genetics
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your CDK6 test results:
Positive Result
A positive result indicates the presence of pathogenic mutations in both copies of the CDK6 gene, confirming the diagnosis of autosomal recessive microcephaly type 12. This result provides:
- Confirmation of clinical diagnosis
- Information about inheritance pattern
- Guidance for medical management strategies
- Recurrence risk assessment for family members
Negative Result
A negative result suggests that CDK6 gene mutations were not detected, which may indicate:
- Microcephaly due to other genetic causes
- Non-genetic factors contributing to small head size
- Need for additional genetic testing
Variant of Uncertain Significance
Some results may identify genetic changes with unclear clinical significance, requiring:
- Additional family studies
- Ongoing monitoring as research advances
- Consideration of other diagnostic approaches
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | CDK6 Gene Microcephaly Autosomal Recessive Type 12 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 |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements and Preparation
Before undergoing CDK6 genetic testing, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session with our certified genetic counselors
- Development of detailed pedigree chart documenting family history
- Discussion of testing implications and potential outcomes
- Informed consent process explaining benefits and limitations
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 network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your family are concerned about microcephaly or have a history of neurological conditions, the CDK6 Gene Microcephaly Autosomal Recessive Type 12 NGS Genetic DNA Test can provide the answers you need. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
