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HelpTest 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.
Genetics Test Information
This test utilizes next generation sequencing to detect single nucleotide and copy number variants in 83 genes associated with rhabdomyolysis and metabolic myopathy: ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, ALDOA, ANO5, ATP2A1, CASQ1, CAVIN1, CHCHD10, COQ2, COQ4, COQ6, COQ8A, COQ9, CPT2, CTDP1, DGUOK, DMD, DNA2, DYSF, ENO3, ETFA, ETFB, ETFDH, FBXL4, FDX2, FKRP, FKTN, FLAD1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LPIN1, MGME1, MRPS25, MSTO1, OPA1, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, PNPLA8, POLG, POLG2, PRKAG2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RYR1, SCN4A, SDHA, SLC22A5, SLC25A20, SLC25A4, SLC25A42, SUCLA2, SUCLG1, TANGO2, TK2, TMEM65, TRIM32, TSFM, TTC19, TWNK, VMA21, and YARS2. For more information see Method Description and Targeted Genes and Methodology Details for Inherited Rhabdomyolysis and Metabolic Myopathy Gene Panel.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for rhabdomyolysis and metabolic myopathy.
Specimen 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 daysSpecimen Retention Time
Whole Blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81443