PDHX Gene Lactic Acidemia Due to PDX1 Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The PDHX Gene Lactic Acidemia Due to PDX1 Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare metabolic disorders affecting the pyruvate dehydrogenase complex. This specialized genetic analysis provides crucial insights into inherited conditions that disrupt normal cellular energy production, offering patients and healthcare providers definitive diagnostic information for informed medical decision-making.
What This Advanced Genetic Test Measures
This comprehensive NGS-based test specifically targets the PDHX gene, which encodes the E3 binding protein component of the pyruvate dehydrogenase complex (PDHc). The test detects:
- Pathogenic variants and mutations in the PDHX gene
- Single nucleotide polymorphisms affecting enzyme function
- Insertions, deletions, and copy number variations
- Genetic markers associated with PDX1 deficiency
- Inheritance patterns for family genetic counseling
Clinical Indications: Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained persistent lactic acidosis
- Neurological symptoms including seizures and developmental delay
- Progressive neurological deterioration in infancy or childhood
- Family history of metabolic disorders or unexplained infant deaths
- Abnormal brain imaging findings suggestive of Leigh syndrome
- Failure to thrive with metabolic acidosis
- Episodic ataxia or movement disorders
Significant Benefits of Genetic Testing
Undergoing the PDHX Gene Lactic Acidemia test provides multiple advantages:
- Definitive Diagnosis: Confirms or rules out PDX1 deficiency with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates timely management to prevent complications
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates presence of pathogenic variants requiring specialized metabolic care
- Negative Result: Suggests absence of tested PDHX mutations but may require additional testing
- Variant of Uncertain Significance: Requires further clinical correlation and family studies
- Carrier Status: Identifies individuals at risk of passing the condition to offspring
Test Pricing and Specifications
| Test Feature | Details |
|---|---|
| Test Name | PDHX Gene Lactic Acidemia Due to PDX1 Deficiency NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
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 your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our expert genetic counseling team is ready to guide you through the testing process and help you understand your results. Early diagnosis can significantly impact treatment outcomes and quality of life for individuals with PDX1 deficiency.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your PDHX Gene Lactic Acidemia test. Our compassionate team is available to answer your questions and help you take control of your genetic health journey.
Remember to bring your clinical history and be prepared for a comprehensive genetic counseling session that includes creating a detailed pedigree chart of family members affected by lactic acidemia symptoms. This information is crucial for accurate interpretation of your genetic test results and developing the most effective management strategy for your specific situation.
