Myopathies (32-gene panel, NGS)
Code: 10851
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(32 genes)
- COL12A1
- COL6A1
- COL6A2
- COL6A3
- DAG1
- DES
- DNAJB6
- DYSF
- EMD
- FHL1
- FKRP
- FKTN
- FLNC
- GAA
- GMPPB
- HNRNPDL
- ISPD
- LIMS2
- LMNA
- MYOT
- PLEC
- PNPLA2
- POGLUT1
- POMGNT1
- POMT1
- POMT2
- SGCA
- SGCB
- SGCD
- SGCG
- SMCHD1
- TCAP