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