Glycogen metabolism disorders (34-gene panel, NGS)
Code: 10174
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(34 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
- PRKAG3
- PYGL
- PYGM
- RBCK1
- SLC2A2
- SLC37A4