HyperCKemia and rhabdomyolysis panel [47 genes]

Persistent elevation in creatine phosphokinase (CPK) can be a marker of mild muscular disease, or its early stages, and represents a frequent cause of referral to a neuromuscular specialist. On the other hand, rhabdomyolisis is the result of sudden tearing of muscle fibers and the release of cell content into the bloodstream, generating an increase in CPK of at least 10 fold, to later decrease rapidly. This process can be accompanied by the secretion of myoglobin in urine, giving it a dark color tone. This panel includes genes related to structural-type muscular disease as well as metabolic-type muscular diseases that may present like this.

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HyperCKemia and rhabdomyolysis panel

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Turnaround time (TAT): 6 weeks

Ref. S-202008642

HyperCKemia and rhabdomyolysis panel: View panel
  • ACAD9
  • ACADM
  • ACADVL
  • AGK
  • AGL
  • ANO5
  • C1QBP
  • CACNA1S
  • CAPN3
  • CAV3
  • CAVIN1
  • COL4A1
  • CPT2
  • DMD
  • DYSF
  • ETFA
  • ETFB
  • FLAD1
  • GAA
  • GBE1
  • GMPPB
  • GYG1
  • GYS1
  • HADHA
  • HADHB
  • ISCU
  • LDHA
  • LPIN1
  • PFKM
  • PGAM2
  • PGK1
  • PGM1
  • PHKA1
  • POLG
  • POLG2
  • PYGM
  • RBCK1
  • RRM2B
  • RYR1
  • SCN4A
  • SLC22A5
  • SLC25A20
  • SUCLA2
  • TANGO2
  • TK2
  • TWNK
  • TYMP

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
GMD comprehensive panel [330 genes]

References

  • Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10:118-26.
  • Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol 2000; 22:87-97.
  • van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis 2009; 10:97-121.