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Glycogen metabolism disorders (33-gene panel, NGS)

Code: 10035

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(33 genes)

  • AGL
  • ALDOA
  • ENO3
  • EPM2A
  • FBP1
  • FBP2
  • G6PC
  • GAA
  • GBE1
  • GYG1
  • GYG2
  • GYS1
  • GYS2
  • KLHL24
  • LAMP2
  • LDHA
  • NHLRC1
  • PFKL
  • PFKM
  • PGAM2
  • PGK1
  • PGM1
  • PHKA1
  • PHKA2
  • PHKB
  • PHKG1
  • PHKG2
  • PRKAG2
  • PYGL
  • PYGM
  • RBCK1
  • SLC2A2
  • SLC37A4

Specialties

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