PHC1 Gene Microcephaly Autosomal Recessive Type 11 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Microcephaly Diagnosis
The PHC1 Gene Microcephaly Autosomal Recessive Type 11 NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics and dysmorphology. This specialized genetic test utilizes next-generation sequencing (NGS) technology to identify mutations in the PHC1 gene, which are responsible for causing autosomal recessive microcephaly type 11. Microcephaly, characterized by an abnormally small head circumference, can lead to significant developmental challenges and neurological complications when left undiagnosed.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the PHC1 (Polyhomeotic Homolog 1) gene, which plays a crucial role in chromatin remodeling and neural development. The test detects:
- Pathogenic variants and mutations in the PHC1 gene
- Single nucleotide polymorphisms (SNPs) associated with microcephaly
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations in autosomal recessive inheritance patterns
- Novel genetic variants that may contribute to the condition
Who Should Consider This Genetic Test
This test is particularly recommended for individuals exhibiting the following symptoms and clinical presentations:
- Infants and children with significantly small head circumference (below the 3rd percentile)
- Individuals with developmental delays and intellectual disability
- Patients with neurological symptoms including seizures or motor coordination issues
- Families with a history of microcephaly or related neurological conditions
- Couples planning pregnancy with known family history of genetic disorders
- Individuals with dysmorphic facial features associated with microcephaly
- Patients undergoing comprehensive neurological evaluation
Key Benefits of PHC1 Genetic Testing
Undergoing this advanced genetic analysis provides numerous clinical and personal benefits:
- Accurate Diagnosis: Confirms or rules out PHC1-related microcephaly with high precision
- Family Planning Guidance: Provides essential information for genetic counseling and reproductive decisions
- Early Intervention: Enables timely implementation of developmental support and therapies
- Treatment Planning: Guides appropriate medical management and specialist referrals
- Prognostic Information: Helps understand potential disease progression and outcomes
- Genetic Counseling: Supports families in understanding inheritance patterns and recurrence risks
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the PHC1 gene, confirming the diagnosis of autosomal recessive microcephaly type 11
- Negative Result: Suggests that no disease-causing mutations were detected in the PHC1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene, important for family planning decisions
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | PHC1 Gene Microcephaly Autosomal Recessive Type 11 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient undergoing testing
- Documentation of family medical history related to microcephaly
- Scheduled genetic counseling session to create a detailed pedigree chart
- Information about affected family members and their symptoms
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our PHC1 Gene Microcephaly Autosomal Recessive Type 11 NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through every step of the process and provide the clarity your family deserves.
