NEU1 Gene Neuraminidase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The NEU1 Gene Neuraminidase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This specialized test utilizes next-generation sequencing technology to analyze the NEU1 gene, which encodes the enzyme neuraminidase. Deficiencies in this enzyme lead to sialidosis, a rare inherited metabolic condition characterized by the accumulation of complex carbohydrates in tissues throughout the body.
What This Test Measures and Detects
Our advanced NGS genetic DNA test specifically targets the NEU1 gene to identify mutations that cause neuraminidase deficiency. The test examines:
- Point mutations, deletions, and insertions in the NEU1 gene
- Genetic variants affecting neuraminidase enzyme function
- Inheritance patterns for family risk assessment
- Specific mutations associated with different forms of sialidosis
Who Should Consider This Test
This genetic test is recommended for individuals experiencing symptoms suggestive of neuraminidase deficiency or those with a family history of metabolic disorders. Key indications include:
- Progressive vision problems including cherry-red spots in the eyes
- Developmental delays in childhood
- Neurological symptoms such as seizures or ataxia
- Coarse facial features or skeletal abnormalities
- Family history of metabolic storage diseases
- Unexplained organ enlargement or dysfunction
Benefits of NEU1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Precise identification of NEU1 gene mutations enables definitive diagnosis
- Early Intervention: Early detection allows for timely management and treatment planning
- Family Planning: Genetic counseling based on test results supports informed reproductive decisions
- Personalized Care: Results guide targeted therapeutic approaches and monitoring strategies
- Peace of Mind: Clear genetic information reduces uncertainty about symptoms and prognosis
Understanding Your Test Results
Our comprehensive genetic report provides detailed analysis of your NEU1 gene sequencing results. The report includes:
- Identification of specific genetic variants and their clinical significance
- Interpretation of mutation impact on neuraminidase enzyme function
- Inheritance pattern explanation for family risk assessment
- Clinical correlation with sialidosis types and severity
- Recommendations for follow-up testing and specialist consultation
All results are reviewed by board-certified genetic specialists and include genetic counseling recommendations to help you understand the implications for your health and family.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Book Your Genetic Test Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors are available to discuss testing options and answer your questions. Contact us today to schedule your NEU1 Gene Neuraminidase Deficiency NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Our team will guide you through the testing process, from sample collection to result interpretation, ensuring you receive comprehensive support throughout your genetic testing journey.
