ALDH3A2 Gene Sjogren-Larsson Syndrome NGS Genetic DNA Test
Comprehensive Genetic Screening for Neurological Disorders
The ALDH3A2 Gene Sjogren-Larsson Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ALDH3A2 gene, which encodes fatty aldehyde dehydrogenase. This enzyme plays a critical role in fatty alcohol metabolism, and its deficiency leads to the accumulation of fatty aldehydes and alcohols in various tissues, causing the characteristic symptoms of Sjogren-Larsson syndrome.
What This Advanced Genetic Test Detects
Our Next-Generation Sequencing (NGS) technology provides comprehensive analysis of the ALDH3A2 gene to identify:
- Pathogenic variants and mutations in the ALDH3A2 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and copy number variations
- Compound heterozygous mutations in autosomal recessive inheritance
- Novel variants with potential clinical significance
Who Should Consider This Genetic Test?
This specialized genetic screening is recommended for individuals presenting with:
- Congenital Ichthyosis: Thick, scaly skin present at birth or developing in early infancy
- Neurological Symptoms: Spastic diplegia or tetraplegia affecting lower limbs
- Developmental Delays: Intellectual disability or learning difficulties
- Visual Impairments: Glistening white dots in the retina (macular degeneration)
- Family History: Known cases of Sjogren-Larsson syndrome in relatives
- Unexplained Neurological Symptoms: When other causes have been ruled out
Significant Benefits of Early Genetic Testing
Undergoing the ALDH3A2 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms Sjogren-Larsson syndrome with molecular precision
- Early Intervention: Enables proactive management of neurological symptoms
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on specific mutations
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation:
- Positive Result: Identifies pathogenic mutations confirming Sjogren-Larsson syndrome diagnosis
- Negative Result: No detected mutations in the ALDH3A2 gene, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results are reviewed by board-certified genetic specialists who provide personalized recommendations for management, treatment options, and family counseling.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| ALDH3A2 Gene Sjogren-Larsson Syndrome NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our certified genetic counselors are available to guide you through the testing process and result interpretation.
Take Control of Your Neurological Health
Early genetic testing for Sjogren-Larsson syndrome can significantly impact treatment outcomes and quality of life. Our state-of-the-art NGS technology provides the most accurate genetic analysis available, supported by expert genetic counseling and comprehensive patient care.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and clarity.
