C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets mutations in the C12ORF65 gene, which plays a critical role in mitochondrial function and cellular energy production. Combined oxidative phosphorylation deficiency type 7 is a severe autosomal recessive disorder that affects the body’s ability to generate energy efficiently, leading to progressive neurological and muscular complications.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the C12ORF65 gene to identify:
- Pathogenic variants and mutations in the C12ORF65 gene
- Single nucleotide polymorphisms (SNPs) affecting mitochondrial function
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations that cause the disorder
- Carrier status for family planning purposes
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Infants and children with developmental delays or regression
- Patients experiencing progressive muscle weakness or hypotonia
- Individuals with neurological symptoms such as ataxia or seizures
- Patients with unexplained metabolic acidosis or lactic acidosis
- Those with family history of mitochondrial disorders or unexplained infant deaths
- Individuals with optic atrophy or vision problems of unknown origin
Key Benefits of Genetic Testing
Early and accurate diagnosis through genetic testing provides numerous advantages:
- Precise Diagnosis: Eliminates diagnostic uncertainty and enables targeted management
- Family Planning: Identifies carrier status and recurrence risks for future pregnancies
- Treatment Guidance: Helps develop personalized management strategies
- Prognostic Information: Provides insight into disease progression and expected outcomes
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates presence of pathogenic mutations; confirms diagnosis and enables proactive management
- Negative Result: Suggests absence of known C12ORF65 mutations but doesn’t rule out other mitochondrial disorders
- Variant of Uncertain Significance: Requires further investigation and possibly family studies
- Carrier Status: Identifies individuals who carry one copy of the mutation without showing symptoms
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 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) Technology |
Nationwide Testing Availability
We have diagnostic centers across major US cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results. Early detection can make a significant difference in managing symptoms and planning for the future.
Book your C12ORF65 Gene Test today or call our genetic specialists at +1(267) 388-9828 for personalized consultation and to schedule your appointment.
