FAH Gene Tyrosinemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Screening for Hereditary Metabolic Disorders
The FAH Gene Tyrosinemia Type 1 NGS Genetic DNA Test represents a breakthrough in precision medicine for metabolic disorders. This advanced diagnostic tool utilizes next-generation sequencing technology to analyze the FAH (fumarylacetoacetate hydrolase) gene, which plays a critical role in the tyrosine metabolic pathway. Tyrosinemia type 1 is an autosomal recessive disorder that affects approximately 1 in 100,000 individuals worldwide, making early detection through genetic testing essential for proper management and treatment.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the FAH gene located on chromosome 15q25.1, examining all coding regions and splice sites for pathogenic variants. The test identifies:
- Point mutations affecting enzyme function
- Deletions and insertions in the FAH gene sequence
- Compound heterozygous mutations
- Novel genetic variants with clinical significance
- Carrier status for family planning purposes
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of tyrosinemia type 1 or those with relevant family history:
- Infants with failure to thrive and feeding difficulties
- Children experiencing unexplained liver dysfunction
- Patients with elevated tyrosine levels in blood tests
- Individuals with renal tubular dysfunction symptoms
- Those with family history of metabolic disorders
- Couples planning pregnancy with known family risk factors
- Siblings of diagnosed tyrosinemia patients
Clinical Benefits of Genetic Testing
Early detection through genetic screening provides numerous advantages for patient care and management:
- Enables prompt initiation of dietary tyrosine restriction
- Facilitates early intervention with nitisinone therapy
- Prevents progression to liver cirrhosis and hepatocellular carcinoma
- Reduces risk of renal complications and neurological crises
- Provides accurate genetic counseling for family planning
- Allows for personalized treatment strategies based on genetic profile
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical guidance:
- Positive Result: Indicates presence of pathogenic FAH gene mutations. Consultation with metabolic specialists is recommended for treatment planning.
- Negative Result: No disease-causing mutations detected, though clinical correlation with symptoms is essential.
- Carrier Status: Identifies individuals with one mutated copy who can pass the condition to offspring.
- Variant of Unknown Significance: Requires additional family studies and clinical evaluation.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
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 counselors and metabolic specialists ensures comprehensive care coordination regardless of your location.
Take Control of Your Metabolic Health Today
Don’t wait to get the answers you need for optimal health management. Our FAH Gene Tyrosinemia Type 1 NGS Genetic DNA Test provides the critical information necessary for early intervention and personalized treatment strategies. With our discounted price of $500 and comprehensive genetic analysis, you’re investing in long-term health outcomes and peace of mind.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results for better health decisions.
