YWHAE Gene Miller-Dieker Lissencephaly Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Brain Malformation Disorders
The YWHAE Gene Miller-Dieker Lissencephaly Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for Miller-Dieker lissencephaly syndrome. This rare and severe neurological condition affects brain development during early fetal stages, leading to significant clinical manifestations that require specialized medical management and genetic counseling.
What is Miller-Dieker Lissencephaly Syndrome?
Miller-Dieker lissencephaly syndrome is a rare genetic disorder characterized by classical lissencephaly (“smooth brain”) resulting from abnormal neuronal migration during brain development. The condition is caused by deletions or mutations in the YWHAE gene located on chromosome 17p13.3, which plays a crucial role in cell division, neuronal migration, and brain formation processes.
What Does the Test Detect?
Our advanced NGS Genetic DNA Test specifically targets:
- Mutations and deletions in the YWHAE gene on chromosome 17p13.3
- Genetic variants associated with classical lissencephaly type 1
- Deletions involving the PAFAH1B1 (LIS1) gene region
- Contiguous gene deletions affecting multiple genes in the 17p13.3 region
- Point mutations, insertions, and deletions within the YWHAE coding sequence
Advanced NGS Technology
Utilizing Next-Generation Sequencing technology, our test provides comprehensive coverage of the entire YWHAE gene with high accuracy and sensitivity. This advanced methodology enables detection of both large deletions and small sequence variations that traditional methods might miss.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Infants with severe developmental delays and neurological abnormalities
- Children exhibiting classic lissencephaly features on brain imaging
- Patients with intractable seizures beginning in infancy
- Individuals with characteristic facial features including prominent forehead, bitemporal hollowing, small jaw, and short nose with upturned nostrils
- Family history of Miller-Dieker syndrome or related brain malformation disorders
- Unexplained severe intellectual disability and motor impairment
- Abnormal brain MRI showing smooth cerebral cortex with reduced gyral patterns
Pediatric Genetic Assessment
This test is particularly crucial for pediatric patients where early diagnosis can significantly impact management strategies, therapeutic interventions, and family planning decisions.
Benefits of Genetic Testing
Comprehensive Diagnostic Advantages
- Accurate Diagnosis: Provides definitive genetic confirmation of Miller-Dieker lissencephaly syndrome
- Prognostic Information: Helps predict disease severity and progression patterns
- Family Planning: Enables informed reproductive decisions for at-risk family members
- Personalized Management: Guides appropriate medical care, seizure management, and developmental support
- Genetic Counseling: Facilitates comprehensive family genetic counseling sessions
- Research Contribution: Contributes to ongoing research and understanding of rare neurological disorders
Understanding Your Test Results
Interpretation Guidelines
Our genetic testing results are carefully analyzed and interpreted by board-certified genetic specialists:
- Positive Result: Identification of pathogenic mutation in YWHAE gene confirms Miller-Dieker syndrome diagnosis
- Negative Result: No mutation detected, though clinical correlation with symptoms remains essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Deletion Detection: Identification of larger chromosomal deletions involving multiple genes
Post-Test Genetic Counseling
All positive results include comprehensive genetic counseling to help families understand the implications, inheritance patterns, and management strategies for affected individuals.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | YWHAE Gene Miller-Dieker Lissencephaly Syndrome 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 |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology, Neurological Disorders |
Pre-Test Requirements
Essential Preparation Steps
- Complete clinical history documentation of the patient
- Mandatory genetic counseling session prior to testing
- Development of detailed pedigree chart documenting family members affected by similar conditions
- Collection of relevant medical records and brain imaging studies
- Informed consent process explaining test implications and potential outcomes
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, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more cities nationwide.
Take Action for Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and management. Our specialized genetic testing provides the answers families need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the YWHAE Gene Miller-Dieker Lissencephaly Syndrome NGS Genetic DNA Test. Our genetic specialists are ready to guide you through every step of the testing process and provide the expert interpretation your family deserves.
Early genetic diagnosis can make a significant difference in managing complex neurological conditions and planning appropriate interventions for optimal quality of life.
