MTTK Gene MERRF Syndrome NGS Genetic DNA Test
Understanding MERRF Syndrome and the MT-TK Gene
Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) syndrome represents a rare mitochondrial disorder characterized by progressive neurological deterioration. The MTTK Gene MERRF Syndrome NGS Genetic DNA Test employs cutting-edge next-generation sequencing technology to identify mutations in the MT-TK gene, which encodes the mitochondrial tRNA for lysine. This comprehensive analysis provides crucial diagnostic information for individuals and families affected by this complex neurological condition.
What This Test Measures and Detects
Our advanced NGS-based test specifically targets the mitochondrial MT-TK gene, detecting pathogenic variants responsible for MERRF syndrome. The test identifies:
- Point mutations in mitochondrial DNA, particularly the common m.8344A>G mutation
- Other pathogenic variants affecting tRNA-Lys function
- Heteroplasmy levels indicating mutation load in mitochondrial DNA
- Genetic markers associated with disease severity and progression
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Progressive myoclonus and epilepsy unresponsive to conventional treatments
- Muscle weakness and exercise intolerance
- Cerebellar ataxia and coordination difficulties
- Hearing loss and visual impairment
- Developmental delays in children
- Family history of mitochondrial disorders or unexplained neurological conditions
- Individuals with ragged-red fibers observed in muscle biopsy
Clinical Indications and Symptoms
Patients experiencing multiple neurological symptoms, particularly when combined with muscle biopsy findings or family history of similar conditions, should strongly consider this test. The presence of myoclonus, seizures, ataxia, and muscle weakness in combination often indicates underlying mitochondrial dysfunction that requires precise genetic diagnosis.
Benefits of MTTK Gene Testing
Undergoing the MTTK Gene MERRF Syndrome NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out MERRF syndrome with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve quality of life
- Research Contribution: Advances understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps interpret your results:
- Positive Result: Indicates presence of pathogenic MT-TK mutation, confirming MERRF syndrome diagnosis
- Negative Result: Suggests absence of common MT-TK mutations, though other mitochondrial genes may need evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Heteroplasmy Level: Indicates mutation load, which correlates with disease severity and age of onset
All results are provided with detailed explanations and recommendations for next steps, including potential treatment options and family screening considerations.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | MTTK Gene MERRF Syndrome 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 |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process
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 healthcare professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Diagnosis
If you or a loved one are experiencing symptoms suggestive of MERRF syndrome or have a family history of mitochondrial disorders, don’t wait to get answers. Early diagnosis can significantly impact treatment outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate team is ready to guide you through the testing process and help you understand your results.
Take control of your health journey with the MTTK Gene MERRF Syndrome NGS Genetic DNA Test – your pathway to accurate diagnosis and personalized care.
