AP4M1 Gene Microcephaly NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Microcephaly Disorders
The AP4M1 Gene Microcephaly NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the AP4M1 gene, which plays a critical role in brain development and neurological function. This specialized test utilizes next-generation sequencing technology to provide comprehensive analysis of genetic variations associated with AP4M1-related microcephaly and associated neurological conditions.
What is AP4M1 Gene Microcephaly?
AP4M1-related disorders constitute a spectrum of neurological conditions characterized by congenital microcephaly, intellectual disability, developmental delays, and progressive spastic paraplegia. The AP4M1 gene encodes a crucial subunit of the adaptor protein complex 4 (AP-4), which is essential for intracellular protein trafficking in neuronal cells. Mutations in this gene disrupt normal brain development, leading to the characteristic features of this genetic disorder.
What Does the Test Measure and Detect?
Our advanced NGS-based AP4M1 Gene Microcephaly Test provides comprehensive analysis of:
- Complete sequencing of the AP4M1 gene to identify pathogenic variants
- Detection of point mutations, insertions, deletions, and copy number variations
- Analysis of all coding regions and splice sites
- Identification of both inherited and de novo mutations
- Assessment of variant pathogenicity using multiple bioinformatics tools
The test employs state-of-the-art next-generation sequencing technology, ensuring high sensitivity and specificity for detecting even rare genetic variants that may contribute to microcephaly and associated neurological symptoms.
Who Should Consider AP4M1 Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Congenital microcephaly (head circumference below the 3rd percentile at birth)
- Progressive microcephaly developing during infancy
- Global developmental delay and intellectual disability
- Spastic paraplegia or progressive motor impairment
- Abnormal brain imaging findings consistent with AP4M1-related disorders
- Family history of similar neurological conditions
- Unexplained neurodevelopmental disorders in childhood
- Suspected hereditary spastic paraplegia with microcephaly
Key Benefits of AP4M1 Genetic Testing
Undergoing AP4M1 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out AP4M1-related disorders, enabling precise medical management
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Provides crucial information for reproductive decision-making and genetic counseling
- Personalized Care: Facilitates development of targeted treatment and intervention strategies
- Early Intervention: Enables timely implementation of supportive therapies and educational plans
- Research Contribution: Contributes to ongoing scientific understanding of rare genetic disorders
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identification of pathogenic or likely pathogenic variants in the AP4M1 gene confirms the diagnosis of AP4M1-related disorder. Genetic counseling is strongly recommended to discuss implications for the patient and family members.
- Negative Result: No pathogenic variants detected in the AP4M1 gene. This significantly reduces the likelihood of AP4M1-related disorder but does not completely exclude other genetic causes of microcephaly.
- Variant of Uncertain Significance (VUS): Identification of genetic changes with unclear clinical significance. Additional family studies or periodic re-evaluation may be recommended.
All results are accompanied by detailed clinical correlations and recommendations from our board-certified genetic specialists.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | AP4M1 Gene Microcephaly 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) |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements
Before scheduling your AP4M1 genetic test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss testing implications
- Development of a detailed pedigree chart documenting family members affected with similar conditions
- Review of previous neurological evaluations and imaging studies
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of AP4M1-related microcephaly or have a family history of similar neurological conditions, don’t wait to get answers. Our comprehensive genetic testing provides the clarity needed for informed medical decisions and personalized care planning.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and AP4M1 testing. Our compassionate team is ready to guide you through the testing process and help you understand your genetic health.
Early genetic diagnosis can make a significant difference in managing neurological conditions and planning appropriate interventions. Take control of your genetic health journey with our expert team and state-of-the-art diagnostic capabilities.
