ISCU Gene Myopathy with Lactic Acidosis Hereditary NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hereditary Myopathy
The ISCU Gene Myopathy with Lactic Acidosis Hereditary NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with hereditary myopathy conditions. This specialized test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the ISCU gene, which plays a critical role in iron-sulfur cluster biogenesis and mitochondrial function. Early and accurate diagnosis through this advanced genetic testing enables healthcare providers to implement targeted treatment strategies and provide appropriate genetic counseling for affected individuals and their families.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets and analyzes the ISCU gene for pathogenic variants that cause hereditary myopathy with lactic acidosis. The test detects:
- Point mutations, insertions, and deletions in the ISCU gene
- Variants affecting iron-sulfur cluster assembly
- Genetic alterations impacting mitochondrial respiratory chain function
- Inheritance patterns for family risk assessment
- Specific mutations associated with exercise intolerance and metabolic dysfunction
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with specific clinical symptoms or family history patterns:
Clinical Indications and Symptoms
- Progressive muscle weakness and exercise intolerance
- Elevated lactic acid levels (lactic acidosis)
- Early-onset myopathy symptoms
- Family history of hereditary muscle disorders
- Unexplained metabolic abnormalities
- Developmental delays in childhood associated with muscle weakness
- Respiratory chain dysfunction symptoms
Key Benefits of ISCU Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out ISCU-related myopathy with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and inheritance risk assessment
- Early Intervention: Facilitates timely management strategies to improve quality of life
- Differential Diagnosis: Helps distinguish between various myopathy types with similar presentations
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your ISCU gene analysis:
- Positive Result: Indicates the presence of pathogenic variants in the ISCU gene, confirming hereditary myopathy with lactic acidosis diagnosis
- Negative Result: Suggests absence of known pathogenic ISCU variants, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed clinical interpretation and recommendations from our expert genetic counseling team.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ISCU Gene Myopathy with Lactic Acidosis Hereditary 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
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
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, and numerous other cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about hereditary myopathy conditions impact your health decisions. Our ISCU Gene Myopathy with Lactic Acidosis Hereditary NGS Genetic DNA Test provides the genetic insights needed for informed medical management and family planning. Contact our genetic specialists today to schedule your test and begin your journey toward genetic clarity.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your comprehensive genetic analysis or to discuss your testing options with our expert staff.
