Test Code RABMP Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Neurology Patient Information
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.
Useful For
Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy
Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk family members
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Rhabdo/Metabolic Myopathy PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Report Available
14 to 21 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81443
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
RABMP | Rhabdo/Metabolic Myopathy Panel | 102118-7 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
617702 | Test Description | 62364-5 |
617703 | Specimen | 31208-2 |
617704 | Source | 31208-2 |
617705 | Result Summary | 50397-9 |
617706 | Result | 82939-0 |
617707 | Interpretation | 69047-9 |
618190 | Additional Results | 82939-0 |
617708 | Resources | 99622-3 |
617709 | Additional Information | 48767-8 |
617710 | Method | 85069-3 |
617711 | Genes Analyzed | 48018-6 |
617712 | Disclaimer | 62364-5 |
617713 | Released By | 18771-6 |
NY State Approved
YesTesting Algorithm
For more information see Neuromuscular Myopathy Testing Algorithm