FH Gene Fumarase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Fumarase Deficiency
The FH Gene Fumarase Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the fumarate hydratase (FH) gene, which encodes the fumarase enzyme critical to cellular energy production. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the FH gene, enabling precise detection of pathogenic variants associated with fumarase deficiency—a rare autosomal recessive metabolic disorder affecting the Krebs cycle.
What This Test Measures and Detects
This advanced genetic screening specifically targets:
- Pathogenic mutations in the FH gene located on chromosome 1
- Single nucleotide variants (SNVs) affecting fumarase enzyme function
- Insertions and deletions that disrupt normal protein production
- Splice site mutations impacting gene expression
- Compound heterozygous variants in autosomal recessive inheritance patterns
Who Should Consider This Test
This genetic analysis is recommended for individuals presenting with:
- Unexplained developmental delays and neurological regression
- Infantile encephalopathy with progressive neurological deterioration
- Seizures unresponsive to conventional treatments
- Dysmorphic facial features and growth abnormalities
- Family history of fumarase deficiency or consanguineous parents
- Elevated fumaric acid levels in urine organic acid analysis
- Unexplained metabolic acidosis or lactic acidosis
Clinical Benefits of Genetic Testing
Undergoing the FH Gene Fumarase Deficiency NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms fumarase deficiency with molecular precision
- Early Intervention: Enables timely therapeutic interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on specific genetic mutations
- Prognostic Information: Helps predict disease progression and potential complications
- Carrier Detection: Identifies asymptomatic carriers within families
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our certified genetic counselors and medical geneticists:
- Positive Result: Indicates pathogenic mutations in both FH gene copies, confirming fumarase deficiency diagnosis
- Carrier Status: Identifies individuals with one mutated FH gene copy who are asymptomatic carriers
- Negative Result: Suggests absence of detectable FH gene mutations in tested regions
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| 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 other cities. Our comprehensive network 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 management of potential fumarase deficiency. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your FH Gene Fumarase Deficiency NGS Genetic DNA Test and take the first step toward understanding your genetic health.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing convenient and accessible. Remember to bring your clinical history and participate in our pre-test genetic counseling session to create a comprehensive family pedigree chart for optimal test interpretation.
