MCPH1 Gene Microcephaly Autosomal Recessive Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Primary Microcephaly
The MCPH1 Gene Microcephaly Autosomal Recessive Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the MCPH1 gene, which plays a critical role in brain development and neuronal proliferation. This specialized test provides definitive answers for families affected by primary microcephaly, a neurological condition characterized by significantly reduced head circumference and associated developmental challenges.
What Does This Test Measure?
This advanced genetic test specifically targets the MCPH1 gene using next-generation sequencing (NGS) technology to identify pathogenic variants responsible for autosomal recessive microcephaly type 1. The test examines:
- Complete MCPH1 gene sequencing for comprehensive mutation detection
- Point mutations, insertions, deletions, and copy number variations
- Autosomal recessive inheritance pattern confirmation
- Pathogenic variants affecting brain development and neuronal migration
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following clinical indications:
- Newborns or children with significantly reduced head circumference (more than 2-3 standard deviations below age and sex norms)
- Individuals with developmental delays, particularly in motor and cognitive functions
- Patients with neurological abnormalities without other identifiable causes
- Families with history of primary microcephaly or consanguineous relationships
- Individuals with dysmorphic features associated with microcephaly syndromes
- Couples planning pregnancy with family history of neurological disorders
Key Benefits of MCPH1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out MCPH1-related microcephaly with high accuracy
- Family Planning Guidance: Enables informed reproductive decisions through genetic counseling
- Early Intervention: Facilitates timely implementation of developmental support services
- Medical Management: Guides appropriate neurological care and monitoring protocols
- Genetic Counseling: Provides clear understanding of inheritance patterns and recurrence risks
- Research Contribution: Advances scientific understanding of microcephaly genetics
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret and understand your MCPH1 test results:
- Positive Result: Identifies pathogenic MCPH1 mutations confirming diagnosis of autosomal recessive microcephaly type 1
- Negative Result: No MCPH1 mutations detected, suggesting other genetic or environmental causes
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of mutated MCPH1 gene
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | MCPH1 Gene Microcephaly Autosomal Recessive Type 1 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 provide comprehensive genetic testing services across the United States with convenient locations in 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 accessible, high-quality care for families nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological development concerns affect your family’s future. Our specialized MCPH1 genetic testing provides the answers you need for informed medical decisions and family planning. Contact our genetic counseling team today to schedule your comprehensive evaluation and begin your journey toward genetic understanding.
Call or WhatsApp our genetic specialists at +1(267) 388-9828 to book your MCPH1 Gene Microcephaly Autosomal Recessive Type 1 NGS Genetic DNA Test today. Our team is ready to provide the expert guidance and support your family deserves.
