FTCD Gene Glutamate Formiminotransferase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The FTCD Gene Glutamate Formiminotransferase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced screening utilizes Next-Generation Sequencing technology to analyze the FTCD gene, which plays a crucial role in folate metabolism and histidine degradation pathways. Early detection through this test can significantly impact treatment outcomes and quality of life for affected individuals.
What This Test Measures and Detects
This specialized genetic test specifically targets the FTCD gene to identify mutations associated with glutamate formiminotransferase deficiency. The test examines:
- Complete sequencing of the FTCD gene coding regions
- Detection of point mutations, insertions, and deletions
- Analysis of splice site variants affecting gene function
- Identification of compound heterozygous mutations
- Assessment of variant pathogenicity and clinical significance
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures or movement disorders
- Elevated formiminoglutamic acid (FIGLU) in urine
- Macrocytic anemia unresponsive to conventional treatments
- Family history of metabolic disorders or consanguineous parents
- Abnormal folate metabolism test results
- Unexplained intellectual disability or learning difficulties
Key Benefits of FTCD Genetic Testing
- Early Diagnosis: Enables prompt intervention and management strategies
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Insights: Helps predict disease progression and outcomes
- Comprehensive Analysis: Utilizes advanced NGS technology for accurate results
- Expert Interpretation: Results reviewed by certified genetic specialists
Understanding Your Test Results
Your genetic test report will include detailed information about detected variants in the FTCD gene. Results are categorized as:
- Positive: Pathogenic mutations identified – indicates confirmed diagnosis
- Negative: No disease-causing variants detected
- Variant of Uncertain Significance (VUS): Genetic changes with unknown clinical impact
- Carrier Status: Identification of heterozygous mutations in asymptomatic individuals
All positive results include comprehensive interpretation and recommendations for follow-up care with metabolic specialists.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | FTCD Gene Glutamate Formiminotransferase 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 scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
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 cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your FTCD Gene Glutamate Formiminotransferase Deficiency NGS Genetic DNA Test and take the first step toward understanding your genetic health.
Early detection through advanced genetic testing can make a significant difference in managing metabolic disorders and improving quality of life. Trust our expertise in genetic diagnostics to provide you with accurate, reliable results and personalized care.
