TPO Gene Thyroid Dyshormonogenesis Type 2A NGS Genetic DNA Test
Comprehensive Genetic Analysis for Thyroid Hormone Synthesis Disorders
The TPO Gene Thyroid Dyshormonogenesis Type 2A NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for thyroid disorders. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the thyroid peroxidase (TPO) gene, which plays a critical role in thyroid hormone synthesis. Thyroid dyshormonogenesis type 2A is an autosomal recessive disorder that disrupts the normal production of thyroid hormones, leading to congenital hypothyroidism and potential developmental complications if left untreated.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the TPO gene located on chromosome 2p25. The test identifies:
- Pathogenic variants and mutations in the TPO gene
- Single nucleotide polymorphisms (SNPs) affecting thyroid peroxidase function
- Deletions, insertions, and missense mutations
- Genetic markers associated with impaired thyroid hormone synthesis
- Inheritance patterns for genetic counseling purposes
The TPO enzyme is essential for the organification of iodide and the coupling of iodotyrosines to form thyroid hormones T3 and T4. Mutations in this gene disrupt these critical biochemical processes, leading to inadequate thyroid hormone production.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Unexplained congenital hypothyroidism
- Family history of thyroid dyshormonogenesis
- Persistent elevated TSH levels with normal or enlarged thyroid gland
- Developmental delays in infants and children
- Failed newborn thyroid screening tests
- Consanguineous parents with thyroid disorder history
- Unexplained goiter in childhood
- Suspected autosomal recessive thyroid disorders
Clinical Benefits of Genetic Testing
Undergoing the TPO Gene Thyroid Dyshormonogenesis Type 2A NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms genetic basis of thyroid dysfunction
- Early Intervention: Enables prompt treatment initiation
- Personalized Treatment: Guides appropriate levothyroxine dosage
- Genetic Counseling: Provides inheritance risk assessment for family planning
- Prognostic Information: Helps predict disease progression and complications
- Family Screening: Identifies at-risk relatives for preventive monitoring
Understanding Your Test Results
Your genetic test report will provide comprehensive information about your TPO gene status:
- Positive Result: Indicates presence of pathogenic mutations confirming thyroid dyshormonogenesis type 2A diagnosis
- Negative Result: Suggests absence of known TPO gene mutations, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Requires further clinical correlation and family studies
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by detailed interpretation from our certified genetic counselors and endocrinology specialists.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| TPO Gene Thyroid Dyshormonogenesis Type 2A NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Testing Availability
We have conveniently located testing centers 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, and many more. Our state-of-the-art facilities ensure accurate sample collection and processing with rapid turnaround times of 3-4 weeks.
Sample Collection and Preparation
This test requires one of the following sample types:
- Blood sample (preferred method)
- Extracted DNA sample
- One drop of blood on FTA card
Pre-test Requirements: Please provide complete clinical history and participate in a genetic counseling session to create a detailed family pedigree chart documenting relatives affected by thyroid disorders.
Take Control of Your Thyroid Health Today
Don’t let unexplained thyroid symptoms affect your quality of life. Our comprehensive TPO Gene Thyroid Dyshormonogenesis Type 2A NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment. With our discounted price of $500 USD and nationwide availability, accessing advanced genetic testing has never been easier.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your thyroid health.
