FH Gene Fumarase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The FH Gene Fumarase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets mutations in the FH (fumarate hydratase) gene, which plays a critical role in cellular energy production through the Krebs cycle. Fumarase deficiency is an autosomal recessive disorder that can lead to severe neurological impairment and developmental challenges if left undiagnosed.
What Does This Test Measure?
Our NGS-based genetic test comprehensively analyzes the FH gene to identify pathogenic variants that cause fumarase deficiency. The test detects:
- Point mutations and small insertions/deletions in the FH gene
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Compound heterozygous mutations in autosomal recessive inheritance
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures and encephalopathy
- Developmental delays and intellectual disability
- Abnormal brain imaging findings
- Family history of fumarase deficiency or similar metabolic disorders
- Elevated fumaric acid levels in urine organic acid analysis
- Consanguineous parentage with suspected genetic disorders
Clinical Benefits of FH Gene Testing
Early detection through genetic testing provides numerous advantages:
- Accurate diagnosis enabling targeted treatment approaches
- Genetic counseling for family planning decisions
- Early intervention strategies to manage symptoms
- Carrier testing for at-risk family members
- Prenatal diagnosis options for future pregnancies
- Personalized medical management based on genetic findings
Understanding Your Test Results
Our comprehensive genetic report includes:
- Detailed analysis of FH gene variants with clinical significance
- Interpretation of mutation impact on enzyme function
- Inheritance pattern explanation for family counseling
- Recommendations for clinical management and follow-up testing
- Genetic counseling resources and next steps
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| FH Gene Fumarase Deficiency NGS Genetic DNA Test – Discount Price | $500 |
| FH Gene Fumarase Deficiency NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health
Don’t wait to get answers about potential genetic metabolic disorders. Our FH Gene Fumarase Deficiency NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you can take proactive steps toward understanding and managing your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward genetic clarity.
