DNAJC19 Gene 3-Methylglutaconic Aciduria Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The DNAJC19 Gene 3-Methylglutaconic Aciduria Type 5 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare inherited metabolic conditions. This advanced genetic analysis specifically targets mutations in the DNAJC19 gene, which plays a critical role in mitochondrial function and energy metabolism. By utilizing cutting-edge Next-Generation Sequencing technology, our test provides unparalleled accuracy in detecting genetic variants associated with 3-methylglutaconic aciduria type 5, enabling early intervention and personalized treatment strategies.
What This Test Measures and Detects
Our comprehensive NGS-based test analyzes the entire coding region of the DNAJC19 gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting gene function
- Novel mutations previously unreported in medical literature
The test specifically examines genetic markers associated with impaired mitochondrial protein import and assembly, which are central to the pathophysiology of 3-methylglutaconic aciduria type 5.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Unexplained developmental delays in infancy or childhood
- Progressive cardiomyopathy or heart muscle abnormalities
- Neurological symptoms including seizures, ataxia, or muscle weakness
- Metabolic acidosis or abnormal organic acid profiles
- Family history of 3-methylglutaconic aciduria or related metabolic disorders
- Unexplained failure to thrive in pediatric patients
- Suspected mitochondrial disorders with characteristic biochemical markers
Benefits of DNAJC19 Genetic Testing
Early and accurate genetic diagnosis through our DNAJC19 test provides numerous clinical advantages:
- Precise Diagnosis: Eliminates diagnostic uncertainty and enables targeted treatment approaches
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows for early intervention to prevent disease complications
- Personalized Care: Guides development of individualized treatment protocols
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates the presence of pathogenic DNAJC19 gene mutations, confirming diagnosis of 3-methylglutaconic aciduria type 5
- Negative Result: Suggests absence of known pathogenic variants, though does not completely rule out the condition
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| DNAJC19 Gene 3-Methylglutaconic Aciduria Type 5 NGS Genetic DNA Test – Discount Price | $500 |
| DNAJC19 Gene 3-Methylglutaconic Aciduria Type 5 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic metabolic disorders affect your quality of life. Our DNAJC19 Gene 3-Methylglutaconic Aciduria Type 5 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our experienced genetic specialists are ready to guide you through every step of the testing process.
