GSTZ1 Gene Tyrosinemia Type 1B NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Tyrosinemia
The GSTZ1 Gene Tyrosinemia Type 1B NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced next-generation sequencing test specifically targets the GSTZ1 gene, which plays a critical role in tyrosine metabolism. Tyrosinemia type 1B is a rare autosomal recessive disorder that can lead to severe liver and kidney complications if left undiagnosed. Our comprehensive testing approach provides healthcare providers and patients with definitive genetic information to guide treatment decisions and family planning.
What This Test Measures and Detects
This specialized genetic test utilizes cutting-edge NGS technology to analyze the complete GSTZ1 gene sequence, identifying:
- Pathogenic mutations in the GSTZ1 gene responsible for tyrosinemia type 1B
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting gene function
- Compound heterozygous and homozygous mutations
- Novel variants with potential clinical significance
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Family history of tyrosinemia or unexplained infant liver failure
- Elevated tyrosine levels in blood or urine tests
- Unexplained liver dysfunction or hepatomegaly
- Developmental delays or failure to thrive in infancy
- Renal tubular dysfunction or Fanconi syndrome symptoms
- Planning pregnancy with known family history of metabolic disorders
- Abnormal newborn screening results for tyrosine metabolism
Significant Benefits of Genetic Testing
Undergoing the GSTZ1 Gene Tyrosinemia Type 1B test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention before serious complications develop
- Personalized Treatment: Guides dietary modifications and medication choices
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prevention: Helps prevent liver failure, renal dysfunction, and neurological damage
- Peace of Mind: Offers definitive answers for concerned families and healthcare providers
- Comprehensive Analysis: NGS technology ensures thorough mutation detection
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic GSTZ1 mutations confirming tyrosinemia type 1B diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the GSTZ1 gene
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| GSTZ1 Gene Tyrosinemia Type 1B NGS Genetic DNA Test – Discount Price | $500 |
| GSTZ1 Gene Tyrosinemia Type 1B 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 cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about hereditary tyrosinemia. Early detection through genetic testing can significantly improve outcomes and quality of life. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support.
Call us now at +1(267) 388-9828 to schedule your GSTZ1 Gene Tyrosinemia Type 1B NGS Genetic DNA Test or to speak with our genetic counseling team. Take the first step toward understanding your genetic health and protecting your family’s future.
