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Metabolic myopathies and rhabdomyolysis (55-gene panel, NGS)

Code: 10177

The availability and turnaround time of this test should be confirmed with the unit before collection.

Method
Next-generation sequencing (NGS)
Collection requirements
EDTA: Blood (10 mL)
Sample stability
Refrigerated at 2-8 °C
Turnaround time
33 working days
Preparation and notes
IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. Clinical history and family history are mandatory.

Genes tested(55 genes)

  • ACAD9
  • ACADL
  • ACADM
  • ACADVL
  • AGL
  • AHCY
  • ALDOA
  • AMPD1
  • ANO5
  • CAV3
  • COQ2
  • COQ8A
  • CPT2
  • DYSF
  • ENO3
  • ETFA
  • ETFB
  • ETFDH
  • FKRP
  • FKTN
  • FLAD1
  • GAA
  • GBE1
  • GYG1
  • GYS1
  • HADHA
  • HADHB
  • ISCU
  • LDHA
  • LPIN1
  • MYH3
  • OPA1
  • OPA3
  • PFKM
  • PGAM2
  • PGK1
  • PGM1
  • PHKA1
  • PNPLA2
  • POLG
  • POLG2
  • PRKAG2
  • PYGM
  • RBCK1
  • RRM2B
  • RYR1
  • SCN4A
  • SLC22A5
  • SLC25A20
  • SUCLA2
  • TANGO2
  • TAZ
  • TK2
  • TWNK
  • TYMP

Specialties

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