EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly NGS Genetic DNA Test
Understanding EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder characterized by distinctive craniofacial abnormalities and developmental challenges. The EFTUD2 gene plays a critical role in this condition, and our advanced NGS genetic DNA test provides comprehensive analysis to identify mutations responsible for this complex disorder. Early and accurate diagnosis is essential for proper medical management and improved quality of life.
What Does This Test Measure?
Our EFTUD2 Gene NGS Genetic DNA Test utilizes cutting-edge next-generation sequencing technology to thoroughly examine the EFTUD2 gene for pathogenic variants. This comprehensive analysis detects:
- Point mutations and small insertions/deletions in the EFTUD2 gene
- Missense, nonsense, and splice-site mutations
- Genetic variations associated with mandibulofacial dysostosis
- Mutations linked to microcephaly development
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or clinical features:
- Distinctive facial features including malar hypoplasia and micrognathia
- Microcephaly (small head circumference)
- Cleft palate or other oral abnormalities
- Developmental delays and intellectual disability
- Hearing loss or ear abnormalities
- Family history of similar craniofacial conditions
- Unexplained growth retardation in infancy
Benefits of EFTUD2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out EFTUD2-related mandibulofacial dysostosis
- Personalized Treatment Planning: Guides appropriate medical interventions and therapies
- Family Planning Guidance: Provides crucial information for genetic counseling
- Early Intervention: Enables timely access to specialized care and support services
- Comprehensive Care Coordination: Connects patients with relevant specialists
Understanding Your Test Results
Our genetic counselors provide detailed interpretation of your EFTUD2 gene analysis results:
- Positive Result: Indicates the presence of a pathogenic mutation in the EFTUD2 gene, confirming the diagnosis of mandibulofacial dysostosis with microcephaly
- Negative Result: Suggests no detectable mutation in the EFTUD2 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly NGS Genetic DNA Test | $500 USD | $700 USD |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Pediatric Genetics
- Department: Genetics
- Disease Category: Dysmorphology
Pre-Test Requirements
Before scheduling your EFTUD2 genetic test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Review of previous genetic testing and medical evaluations
Nationwide Testing Availability
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 accessible, high-quality care nationwide.
Take the Next Step Toward Answers
If you or your child are experiencing symptoms suggestive of mandibulofacial dysostosis with microcephaly, don’t wait to get the answers you need. Our comprehensive EFTUD2 genetic test provides the clarity required for proper diagnosis and treatment planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly NGS Genetic DNA Test. Our team is ready to guide you through the testing process and help you understand your genetic health.
