TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Tyrosinemia Type 2
The TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets mutations in the TAT (tyrosine aminotransferase) gene, which plays a crucial role in the breakdown of the amino acid tyrosine. When this gene malfunctions, it leads to Tyrosinemia Type 2, a rare autosomal recessive disorder that can cause serious health complications if left undiagnosed and untreated.
What Does This Test Measure?
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the TAT gene for pathogenic variants. The test specifically detects:
- Point mutations in the TAT gene coding regions
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Splice site variants that disrupt normal protein production
- Genetic variations associated with impaired tyrosine metabolism
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing symptoms or having risk factors for Tyrosinemia Type 2, including:
- Infants and children with unexplained eye problems, particularly photophobia and excessive tearing
- Individuals with painful skin lesions on palms and soles
- Patients with developmental delays or intellectual disability
- Those with elevated tyrosine levels in blood tests
- Individuals with a family history of Tyrosinemia Type 2
- Couples planning pregnancy with known family history of metabolic disorders
- Newborns with positive newborn screening for tyrosine metabolism issues
Key Benefits of Genetic Testing
Undergoing the TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention before serious complications develop
- Personalized Treatment: Guides dietary modifications and medical management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Preventive Care: Helps prevent vision loss, skin damage, and neurological complications
- Accurate Prognosis: Allows for better understanding of disease progression and outcomes
- Peace of Mind: Provides definitive answers for concerned families and individuals
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and explained in clear, understandable terms:
- Positive Result: Indicates the presence of pathogenic mutations in the TAT gene, confirming Tyrosinemia Type 2 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is always recommended
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Reveals if you carry one copy of a mutated gene, important for family planning
All positive results include comprehensive genetic counseling to help you understand the implications and next steps for management and treatment.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test – Discount Price | $500 |
| TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test – 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 many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Better Health
Don’t let uncertainty about genetic metabolic disorders affect your quality of life. Our TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With rapid turnaround times of 3-4 weeks and comprehensive genetic counseling support, we make genetic testing accessible and understandable.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.
