LDHA Gene Glycogen Storage Disease Type 11 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The LDHA Gene Glycogen Storage Disease Type 11 NGS Genetic DNA Test represents a significant advancement in genetic diagnostics for metabolic disorders. This specialized test focuses on identifying mutations in the LDHA (Lactate Dehydrogenase A) gene, which plays a crucial role in energy metabolism and glycogen breakdown processes within muscle tissues.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the LDHA gene for pathogenic variants associated with Glycogen Storage Disease Type 11. The test detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the LDHA gene
- Genetic markers linked to impaired lactate dehydrogenase function
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Glycogen Storage Disease Type 11, including:
- Exercise intolerance and muscle fatigue
- Recurrent muscle cramps and pain
- Elevated creatine kinase levels
- Muscle weakness following physical activity
- Family history of metabolic disorders
- Unexplained muscle symptoms in childhood or adulthood
Clinical Benefits of Genetic Testing
Undergoing the LDHA Gene Glycogen Storage Disease Type 11 test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out GSD11 with high precision
- Personalized Treatment: Guides appropriate management strategies
- Genetic Counseling: Provides essential information for family planning
- Early Intervention: Enables proactive management of symptoms
- Disease Monitoring: Helps track disease progression and treatment response
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and metabolic specialists:
- Positive Result: Indicates the presence of pathogenic variants in the LDHA gene, confirming Glycogen Storage Disease Type 11 diagnosis
- Negative Result: Suggests no disease-causing mutations were detected in the LDHA gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
All results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Details and Pricing
| Test Information | Details |
|---|---|
| Test Name | LDHA Gene Glycogen Storage Disease Type 11 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Nationwide Testing Availability
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 cities nationwide. Our network of certified genetic testing facilities ensures accessible, reliable service wherever you are located.
Take Control of Your Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. The LDHA Gene Glycogen Storage Disease Type 11 NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take the first step toward accurate diagnosis and personalized care for metabolic disorders.
