DGUOK Gene Mitochondrial DNA Depletion Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The DGUOK Gene Mitochondrial DNA Depletion Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced testing method specifically targets the DGUOK gene, which plays a critical role in mitochondrial DNA maintenance and replication. Mitochondrial DNA depletion syndromes are severe genetic disorders that affect multiple organ systems, particularly the brain and liver, making early and accurate diagnosis essential for effective management and treatment planning.
What Does This Test Measure and Detect?
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the DGUOK gene for mutations and variations. The test specifically detects:
- Pathogenic variants in the DGUOK gene that cause mitochondrial DNA depletion
- Single nucleotide polymorphisms (SNPs) associated with disease development
- Insertions, deletions, and other structural variations affecting gene function
- Copy number variations that may impact mitochondrial DNA stability
The DGUOK gene encodes deoxyguanosine kinase, an essential enzyme for mitochondrial DNA synthesis. Mutations in this gene disrupt the mitochondrial nucleotide pool, leading to progressive loss of mitochondrial DNA and subsequent energy production failure in cells.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Infants and children with unexplained neurological deterioration
- Patients exhibiting progressive liver dysfunction without clear cause
- Individuals with developmental delays and regression of motor skills
- Cases of unexplained metabolic acidosis or lactic acidosis
- Family history of mitochondrial disorders or consanguineous parents
- Patients with suspected Alpers-Huttenlocher syndrome or similar conditions
Common Clinical Presentations Include:
- Hypotonia (poor muscle tone) and weakness
- Seizures that are difficult to control
- Feeding difficulties and failure to thrive
- Visual disturbances and nystagmus
- Hepatic dysfunction and elevated liver enzymes
- Developmental regression and cognitive decline
Benefits of DGUOK Gene Testing
Undergoing this comprehensive genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of mitochondrial DNA depletion syndrome
- Early Intervention: Enables timely treatment and management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to scientific understanding of rare mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results with clarity and compassion:
- Positive Result: Indicates the presence of pathogenic mutations in the DGUOK gene, confirming mitochondrial DNA depletion syndrome diagnosis
- Negative Result: Suggests that DGUOK gene mutations are not the cause of symptoms, though other genetic causes may need investigation
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance requires further research and family studies
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations for next steps in medical management.
Test Pricing and Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
To ensure the most accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Informed consent for genetic testing
- Insurance information and physician referral when applicable
Nationwide Accessibility
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 healthcare professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about mitochondrial disorders delay proper diagnosis and treatment. Our advanced DGUOK Gene Mitochondrial DNA Depletion Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your genetic health.
