Myopathy/Rhabdomyolysis Panel by Massively Parallel Sequencing
Use
The Myopathy/Rhabdomyolysis Panel is designed to assess 25 nuclear genes related to energy metabolism syndromes, addressing conditions like mitochondrial diseases, fatty acid oxidation diseases, and glycogen storage diseases. These metabolic myopathies result from disruptions in carbohydrate and fatty acid metabolism, leading to chronic muscle weakness and episodes of irreversible muscle dysfunction, influenced by genetic inheritance and environmental factors. Variability in symptom onset and severity underscores the importance of targeted genetic testing for individuals with a clinical diagnosis or family history of such disorders.
Special Instructions
Patients should provide samples from both the patient and parents as applicable. The test is suitable for individuals with a clinical diagnosis of energy metabolism disorders or related conditions. Additional consultation may be requested if interpretation of results or rare findings occurs. It is recommended that healthcare professionals oversee the collection of samples, particularly for self-collection kits. All materials and methods for sample collection should adhere to established protocols to ensure the integrity of the samples.
Limitations
The test has specific limitations including the inability to detect small copy number variants or structural rearrangements, as well as potential decreased sensitivity in genomic regions with high sequence homology. It also excludes noncoding variants located deep within introns, necessitating caution when interpreting results for complex genomic conditions. Additionally, conditions affecting metabolic myopathies may have various modes of inheritance that can complicate diagnosis and interpretations. Genetic consultation is recommended for comprehensive understanding and guidance.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
10cc (adults)
Minimum Volume
5cc (children)
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in EDTA (purple-top) tube(s) for the patient and both parents.
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Causes for Rejection
Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |