LYRM4 Gene Combined Oxidative Phosphorylation Deficiency Type 19 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The LYRM4 Gene Combined Oxidative Phosphorylation Deficiency Type 19 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare metabolic conditions. This advanced genetic screening utilizes Next-Generation Sequencing (NGS) technology to detect mutations in the LYRM4 gene, which plays a critical role in mitochondrial function and cellular energy production. Combined Oxidative Phosphorylation Deficiency Type 19 is a rare autosomal recessive disorder that affects the body’s ability to generate energy efficiently, leading to multi-system complications.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets:
- Complete sequencing of the LYRM4 gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
- Assessment of mitochondrial complex assembly and function
- Identification of inherited or de novo mutations affecting oxidative phosphorylation
- Analysis of genetic markers associated with metabolic pathway disruptions
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures, ataxia, or developmental regression
- Progressive muscle weakness and exercise intolerance
- Metabolic acidosis or recurrent metabolic crises
- Developmental delays in infancy or childhood
- Family history of mitochondrial disorders or unexplained infant deaths
- Multiple organ system involvement without clear diagnosis
- Abnormal metabolic screening results
Clinical Benefits of LYRM4 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Combined Oxidative Phosphorylation Deficiency Type 19 with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve quality of life
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates the presence of pathogenic LYRM4 gene mutations. This confirms the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 19 and provides specific mutation details for targeted management.
- Negative Result: Suggests that no disease-causing mutations were detected in the LYRM4 gene. However, clinical correlation with symptoms is essential, as other genetic or metabolic conditions may be present.
- Variant of Uncertain Significance (VUS): Some genetic changes may have unclear clinical implications. These findings require careful interpretation by genetic specialists and may warrant additional family studies.
All results are accompanied by detailed interpretation from our board-certified geneticists, providing clear guidance for next steps in patient management.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | LYRM4 Gene Combined Oxidative Phosphorylation Deficiency Type 19 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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) |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation for the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
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 collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Diagnosis
Don’t let unexplained symptoms continue without answers. Our LYRM4 Gene Combined Oxidative Phosphorylation Deficiency Type 19 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or to speak with our genetic counseling team. Take control of your health journey with precise, reliable genetic testing from America’s trusted diagnostic provider.
