ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurocutaneous Disorders
The ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ELOVL4 (Elongation of Very Long Chain Fatty Acids-Like 4) gene. This specialized genetic test utilizes next-generation sequencing technology to detect specific genetic variants associated with a rare, complex neurocutaneous disorder characterized by multiple systemic manifestations.
What Does This Test Measure?
This advanced genetic screening specifically targets the ELOVL4 gene, which plays a crucial role in fatty acid elongation and is essential for maintaining proper neurological function and skin integrity. The test identifies:
- Pathogenic mutations in the ELOVL4 gene sequence
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting gene function
- Specific genetic markers associated with disease severity
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Progressive ichthyosis (scaly, dry skin) beginning in infancy or childhood
- Spastic quadriplegia with progressive muscle stiffness and weakness
- Developmental delays and intellectual disability
- Family history of similar neurological and dermatological symptoms
- Unexplained combination of skin abnormalities and neurological impairments
- Progressive vision problems or retinal abnormalities
Clinical Benefits of Genetic Testing
Undergoing the ELOVL4 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms, eliminating diagnostic uncertainty
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Personalized Management: Guides targeted treatment approaches and symptom management strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive therapies and interventions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Identifies a pathogenic mutation in the ELOVL4 gene, confirming the diagnosis and enabling targeted management
- Negative Result: No disease-causing mutations detected, though clinical correlation with symptoms remains important
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our experienced genetic counseling team is available to discuss your testing options and help you understand the implications of genetic testing for you and your family.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Early genetic diagnosis can make a significant difference in managing symptoms and planning for the future.
