MED12 Gene Lujan-Fryns Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurodevelopmental Disorders
The MED12 Gene Lujan-Fryns Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the MED12 gene, which are responsible for Lujan-Fryns syndrome. This X-linked genetic disorder primarily affects males and is characterized by distinctive physical features, intellectual disability, and behavioral abnormalities. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting even the most subtle genetic variations, offering families and healthcare providers definitive diagnostic clarity.
What Does This Test Measure and Detect?
This specialized genetic test employs next-generation sequencing (NGS) technology to comprehensively analyze the MED12 gene for pathogenic variants. The test specifically identifies:
- Point mutations and single nucleotide variants in the MED12 gene
- Small insertions and deletions affecting gene function
- Missense mutations that alter protein structure
- Frameshift mutations disrupting normal gene reading
- Splice site variants affecting RNA processing
The MED12 gene encodes a crucial component of the mediator complex, which plays a vital role in regulating gene transcription. Mutations in this gene disrupt normal developmental processes, leading to the characteristic features of Lujan-Fryns syndrome.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following clinical features:
- Intellectual Disability: Moderate to severe cognitive impairment
- Marfanoid Habitus: Tall stature with long limbs and slender build
- Distinctive Facial Features: Long face, high forehead, and prominent jaw
- Behavioral Abnormalities: Autism spectrum features, attention deficits
- Speech and Language Delays: Articulation difficulties and language impairment
- Family History: X-linked inheritance pattern with affected male relatives
Clinical Benefits of MED12 Genetic Testing
Undergoing MED12 gene testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms clinical suspicions and eliminates diagnostic uncertainty
- Personalized Management: Enables targeted interventions and specialized care plans
- Genetic Counseling: Provides accurate recurrence risk information for family planning
- Early Intervention: Facilitates timely educational and therapeutic support
- Research Contribution: Advances understanding of rare genetic disorders
- Psychological Relief: Reduces anxiety by providing clear answers
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Confirms diagnosis of Lujan-Fryns syndrome and guides management strategies
- Negative Result: May suggest alternative genetic diagnoses requiring further investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for female relatives regarding reproductive risks
All results are accompanied by detailed explanations and recommendations from our board-certified genetic counselors.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| MED12 Gene Lujan-Fryns Syndrome NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and phlebotomists ensures accessible, high-quality 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 MED12 Gene Lujan-Fryns Syndrome NGS Genetic DNA Test provides the answers you need with exceptional accuracy and comprehensive support. With a turnaround time of 3-4 weeks and our discounted price of $500 USD, obtaining definitive genetic information has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through every step of the testing process and provide the clarity your family deserves.
