Congenital myopathies (26-gene panel, NGS)
Code: 10034
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(26 genes)
- ACTA1
- BIN1
- CCDC78
- CFL2
- DNM2
- GLDN
- HACD1
- KBTBD13
- KLHL40
- KLHL41
- LMOD3
- MAP3K20
- MTM1
- MYF6
- MYH7
- MYL2
- MYPN
- NEB
- RYR1
- SELENON
- SPEG
- TNNT1
- TPM2
- TPM3
- TRIM32
- TTN