EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced testing method utilizes cutting-edge Next Generation Sequencing technology to identify mutations in the EFTUD2 gene, which plays a critical role in normal craniofacial development and brain growth. Early and accurate diagnosis is essential for proper medical management and genetic counseling for affected individuals and their families.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the EFTUD2 gene, which encodes a component of the major spliceosome complex. The test detects:
- Pathogenic variants and mutations in the EFTUD2 gene
- Single nucleotide polymorphisms associated with disease risk
- Deletions, insertions, and other structural variations
- Novel genetic variants that may contribute to disease manifestation
Using state-of-the-art NGS technology, our laboratory provides comprehensive analysis of the entire EFTUD2 gene coding region, ensuring maximum detection sensitivity for this rare genetic disorder.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical features:
- Characteristic facial abnormalities including malar hypoplasia, micrognathia, and ear anomalies
- Microcephaly (small head circumference below the 3rd percentile)
- Developmental delays and intellectual disability
- Hearing loss or auditory processing difficulties
- Feeding difficulties in infancy and early childhood
- Family history of similar craniofacial and neurological conditions
- Unexplained growth retardation and developmental concerns
Key Benefits of EFTUD2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out EFTUD2-related mandibulofacial dysostosis with microcephaly
- Early Intervention: Enables timely medical management and therapeutic interventions
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Personalized Care: Guides development of individualized treatment plans based on genetic findings
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clear clinical guidance:
- Positive Result: Indicates the presence of a pathogenic mutation in the EFTUD2 gene, confirming the diagnosis of mandibulofacial dysostosis with microcephaly
- Negative Result: Suggests that no disease-causing mutations were detected in the EFTUD2 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown
- Carrier Status: Determines if an individual carries one copy of a mutated gene
All results are accompanied by detailed explanations and recommendations for follow-up care. Genetic counseling is strongly recommended to fully understand the implications of your test results.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly NGS Genetic DNA Test | $500 USD | $700 USD |
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 state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Sample Collection and Processing
This test requires one of the following sample types:
- Blood sample collected in EDTA tubes
- Extracted DNA meeting quality specifications
- One drop of blood on FTA card
Turnaround time for results is typically 3 to 4 weeks from sample receipt. Pre-test requirements include providing complete clinical history and participating in a genetic counseling session to document family pedigree information.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and management of EFTUD2-related disorders. Our team of genetic specialists and neurologists is ready to provide comprehensive testing and support throughout your diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or to speak with our genetic counseling team. Early diagnosis can make a significant difference in treatment outcomes and quality of life.
