FASTKD2 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test
Understanding Mitochondrial Complex IV Deficiency
Mitochondrial complex IV deficiency represents a critical group of inherited metabolic disorders affecting the electron transport chain, specifically cytochrome c oxidase (COX) deficiency. The FASTKD2 gene plays a pivotal role in mitochondrial RNA metabolism and is essential for proper assembly and function of complex IV. When mutations occur in the FASTKD2 gene, they disrupt mitochondrial energy production, leading to severe neurological and metabolic consequences that can manifest at any age.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically targets the FASTKD2 gene to identify pathogenic variants responsible for mitochondrial complex IV deficiency. The test utilizes cutting-edge next-generation sequencing technology to comprehensively analyze:
- Complete coding regions of the FASTKD2 gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with mitochondrial disorders
- Novel mutations that may impact protein function
- Copy number variations affecting gene dosage
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disease, particularly:
- Infants and children with developmental delay or regression
- Patients experiencing progressive muscle weakness and exercise intolerance
- Individuals with neurological symptoms including seizures, ataxia, or movement disorders
- Cases of unexplained metabolic acidosis or lactic acidosis
- Family history of mitochondrial disorders or unexplained infant deaths
- Patients with Leigh syndrome or similar neurodegenerative conditions
- Individuals with multisystem involvement affecting brain, muscle, and other organs
Benefits of Genetic Testing
Undergoing the FASTKD2 Gene Mitochondrial Complex IV Deficiency test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of mitochondrial dysfunction
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve quality of life
- Research Contribution: Advances scientific understanding of mitochondrial disorders
Understanding Your Test Results
Interpretation Guidance
Our comprehensive genetic counseling service helps you understand your test results:
- Positive Result: Indicates the presence of pathogenic variants in the FASTKD2 gene, confirming the genetic diagnosis of mitochondrial complex IV deficiency
- Negative Result: Suggests that no disease-causing mutations were detected in the FASTKD2 gene, though other genetic or non-genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown, requiring further evaluation and possibly family studies
- Carrier Status: Determines if an individual carries one copy of a mutated gene, which may have implications for family members
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FASTKD2 Gene Mitochondrial Complex IV Deficiency 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 |
| Specialty | Neurology |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart of family members affected by mitochondrial disorders
- Informed consent for genetic testing and potential implications
- Discussion of potential results and their impact on medical management
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities 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 medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of mitochondrial disease, don’t wait to get answers. Our FASTKD2 Gene Mitochondrial Complex IV Deficiency NGS Genetic DNA Test provides the comprehensive genetic analysis needed for accurate diagnosis and informed medical decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can make a significant difference in managing mitochondrial disorders and improving quality of life. Take control of your health journey with our advanced genetic testing services.
