SLC5A5 Gene Thyroid Dyshormonogenesis Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Thyroid Hormone Deficiency
The SLC5A5 Gene Thyroid Dyshormonogenesis Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for thyroid disorders. This advanced test specifically targets the SLC5A5 gene, which encodes the sodium/iodide symporter (NIS) protein essential for proper thyroid hormone synthesis. When mutations occur in this critical gene, individuals develop thyroid dyshormonogenesis type 1, a form of congenital hypothyroidism that can lead to severe developmental complications if left untreated.
What This Test Measures and Detects
Our comprehensive NGS genetic DNA test employs cutting-edge next-generation sequencing technology to thoroughly analyze the SLC5A5 gene for:
- Point mutations affecting sodium/iodide symporter function
- Deletions and insertions disrupting gene expression
- Splice site mutations altering protein structure
- Regulatory region variants affecting gene regulation
- Compound heterozygous mutations causing autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained congenital hypothyroidism symptoms
- Family history of thyroid dyshormonogenesis
- Delayed physical and mental development in infancy
- Persistent fatigue and growth retardation
- Unexplained goiter or thyroid enlargement
- Consanguineous parentage with thyroid disorder history
- Previous inconclusive thyroid function test results
Clinical Benefits of Genetic Testing
Undergoing the SLC5A5 genetic test provides numerous clinical advantages:
- Accurate diagnosis enabling targeted treatment strategies
- Early intervention to prevent developmental complications
- Comprehensive genetic counseling for family planning
- Personalized thyroid hormone replacement therapy planning
- Identification of at-risk family members for preventive screening
- Improved long-term prognosis through timely management
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming thyroid dyshormonogenesis type 1 diagnosis, requiring immediate endocrinology consultation
- Negative Result: No SLC5A5 mutations detected, suggesting alternative causes for thyroid dysfunction
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, and numerous other cities. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take Control of Your Thyroid Health Today
Don’t let unexplained thyroid symptoms compromise your quality of life. Our SLC5A5 Gene Thyroid Dyshormonogenesis Type 1 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and treatment. With results available in 3-4 weeks and comprehensive genetic counseling included, you’ll gain valuable insights into your thyroid health and inheritance patterns.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your thyroid health.
