DUOXA2 Gene Thyroid Dyshormonogenesis Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Thyroid Hormone Synthesis Disorders
The DUOXA2 Gene Thyroid Dyshormonogenesis Type 5 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for thyroid disorders. This advanced genetic analysis specifically targets the DUOXA2 gene, which plays a critical role in thyroid hormone biosynthesis. When mutations occur in this gene, they disrupt the normal production of thyroid hormones, leading to congenital hypothyroidism and potentially severe developmental consequences if left untreated.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test precisely identifies:
- Pathogenic variants in the DUOXA2 gene responsible for thyroid dyshormonogenesis type 5
- Single nucleotide polymorphisms (SNPs) affecting thyroid peroxidase activity
- Deletions, insertions, and copy number variations in the DUOXA2 genomic region
- Compound heterozygous and homozygous mutations causing impaired thyroid hormone synthesis
- Genetic markers associated with autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Neonates with elevated TSH levels and normal or enlarged thyroid gland
- Children showing signs of developmental delay or intellectual disability
- Patients with family history of congenital hypothyroidism or thyroid disorders
- Individuals with unexplained growth retardation or delayed bone age
- Newborns with goiter or abnormal thyroid ultrasound findings
- Patients with persistent hypothyroidism despite normal thyroid anatomy
- Couples with previous child affected by thyroid dyshormonogenesis
Clinical Benefits of DUOXA2 Genetic Testing
Early genetic diagnosis through our DUOXA2 test provides numerous clinical advantages:
- Early Intervention: Enables prompt initiation of thyroid hormone replacement therapy
- Prevention of Complications: Helps prevent irreversible neurological damage and intellectual disability
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides appropriate dosing and monitoring of levothyroxine therapy
- Differential Diagnosis: Distinguishes between different types of thyroid dyshormonogenesis
- Prognostic Information: Helps predict disease severity and long-term outcomes
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your DUOXA2 gene analysis:
Positive Result Interpretation
- Pathogenic Variants Detected: Confirms diagnosis of thyroid dyshormonogenesis type 5
- Clinical Correlation: Results should be interpreted in context of clinical symptoms and thyroid function tests
- Treatment Implications: Immediate initiation of thyroid hormone replacement therapy is recommended
- Family Screening: Suggests genetic testing for siblings and at-risk family members
Negative Result Interpretation
- No Pathogenic Variants: Rules out DUOXA2-related thyroid dyshormonogenesis type 5
- Further Evaluation: May require additional genetic testing for other thyroid disorder genes
- Clinical Follow-up: Continued monitoring of thyroid function may be necessary
Variant of Uncertain Significance (VUS)
- Additional Analysis: May require family studies or functional validation
- Clinical Correlation: Interpretation depends on clinical presentation and family history
- Periodic Re-evaluation: VUS classification may change as more data becomes available
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | DUOXA2 Gene Thyroid Dyshormonogenesis Type 5 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 |
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care and support throughout the testing process.
Take Control of Your Thyroid Health Today
Don’t let uncertainty about thyroid disorders affect your quality of life or your child’s development. Our DUOXA2 genetic test provides definitive answers and guides appropriate medical management. Early diagnosis can prevent serious complications and ensure optimal growth and neurological development.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your DUOXA2 Gene Thyroid Dyshormonogenesis Type 5 NGS Genetic DNA Test. Our genetic specialists are available to answer your questions and guide you through the testing process.
Take the first step toward understanding your genetic risk and ensuring proper thyroid function. Book your comprehensive genetic analysis now and receive the clarity you need for informed healthcare decisions.
