Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
Use
Establishes a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy. Identifies variants within 83 genes associated with these conditions, supporting diagnostic and predictive testing for at-risk family members. Detection of disease-causing variants assists with prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.
Special Instructions
New York State informed consent is required. Customize the panel and single gene analysis for any gene present on this panel. For more information, contact the laboratory. Saliva specimens are acceptable but not recommended due to lower DNA yield. Testing may be canceled if DNA requirements are inadequate. Documentation of informed consent is required for New York clients. Genetic counseling is available for assistance.
Limitations
Next-generation sequencing may not detect all genomic variants. Some regions may not be evaluated due to technical limitations, such as homology and high GC content. The test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp; larger events may be less reliably detected. It is not designed to detect low levels of mosaicism, differentiate between somatic and germline variants, or detect balanced structural rearrangements. If donor DNA is present due to a recent transfusion or transplant, results may be inaccurate.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 102118-7
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |