TPMT Gene Deficiency NGS Genetic DNA Test
Understanding TPMT Gene Testing
The TPMT Gene Deficiency NGS Genetic DNA Test represents a breakthrough in personalized medicine, offering crucial insights into how your body processes specific medications. Thiopurine S-methyltransferase (TPMT) is a critical enzyme responsible for metabolizing thiopurine drugs commonly used in treating autoimmune diseases, inflammatory conditions, and certain cancers. Genetic variations in the TPMT gene can significantly impact your ability to safely process these medications, making this test an essential component of modern healthcare.
What Does the TPMT Gene Test Measure?
This advanced Next-Generation Sequencing (NGS) test comprehensively analyzes the TPMT gene to identify genetic polymorphisms that affect enzyme activity. The test specifically detects:
- Common TPMT gene variants associated with reduced enzyme function
- Genetic mutations that lead to complete enzyme deficiency
- Intermediate metabolizer genotypes requiring dosage adjustments
- Poor metabolizer genotypes indicating high risk for toxicity
- Normal metabolizer genotypes allowing standard dosing
Who Should Consider TPMT Genetic Testing?
This test is particularly important for individuals who:
- Are scheduled to begin thiopurine therapy (azathioprine, 6-mercaptopurine, thioguanine)
- Have experienced adverse reactions to thiopurine medications
- Have family members with known TPMT deficiency
- Require treatment for autoimmune diseases like Crohn’s disease or rheumatoid arthritis
- Are undergoing organ transplantation requiring immunosuppression
- Have been diagnosed with acute lymphoblastic leukemia (ALL)
- Show unexplained bone marrow suppression or hepatotoxicity
Clinical Benefits of TPMT Genetic Testing
Understanding your TPMT genetic profile offers numerous advantages:
- Personalized Medication Dosing: Enables precise dosage adjustments based on your genetic makeup
- Toxicity Prevention: Identifies patients at high risk for severe drug reactions before treatment begins
- Improved Treatment Outcomes: Optimizes therapeutic efficacy while minimizing side effects
- Cost-Effective Care: Reduces hospitalizations and complications from adverse drug reactions
- Enhanced Safety: Provides critical information for emergency medical situations
- Family Screening: Helps identify at-risk relatives who may benefit from testing
Understanding Your Test Results
Your TPMT genetic test results will fall into one of several categories:
Normal Metabolizer
Individuals with normal TPMT activity can typically tolerate standard doses of thiopurine medications with minimal risk of toxicity. Regular monitoring is still recommended during treatment.
Intermediate Metabolizer
Patients with intermediate enzyme activity may require reduced medication doses and closer monitoring for potential side effects. Your healthcare provider will develop a personalized treatment plan.
Poor Metabolizer
Individuals with significantly reduced or absent TPMT activity are at high risk for severe, potentially life-threatening toxicity with standard thiopurine doses. Alternative treatment options should be considered.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | TPMT Gene Deficiency 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 |
Pre-Test Requirements
Before undergoing TPMT genetic testing, we recommend:
- Comprehensive clinical history review
- Genetic counseling session to understand implications
- Family pedigree analysis for inherited patterns
- Discussion of potential results and their impact on treatment
Nationwide Testing Availability
GGC DNA offers TPMT 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 state-of-the-art laboratories ensure accurate, reliable results you can trust.
Take Control of Your Medication Safety
Don’t leave your medication safety to chance. The TPMT Gene Deficiency NGS Genetic DNA Test provides essential information that can prevent serious adverse drug reactions and optimize your treatment outcomes. With our discounted price of $500 USD, this life-saving genetic insight is more accessible than ever.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Your personalized medication safety plan starts with understanding your genetic profile.

