Limb-girdle muscular dystrophy [next-generation sequencing, 54 genes (NGS)]
Code: 3124
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 (5 mL) Note: Clinical history and family history are mandatory.
- Sample stability
- Refrigerated at 2-8 °C
- Turnaround time
- 48 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.
Genes tested(54 genes)
- ACADVL
- ANO5
- BAG3
- CAPN3
- CAV3
- COL6A1
- COL6A2
- COL6A3
- CPT2
- CRPPA
- CRYAB
- DAG1
- DES
- DNAJB6
- DOK7
- DYSF
- EMD
- FHL1
- FKRP
- FKTN
- FLNC
- GAA
- GMPPB
- GNE
- HNRNPDL
- LAMA2
- LAMP2
- LMNA
- LPIN1
- MTM1
- MYH7
- MYOT
- PLEC
- POMGNT1
- POMGNT2
- POMT1
- POMT2
- PYGM
- RYR1
- SELENON
- SGCA
- SGCB
- SGCD
- SGCG
- STIM1
- SYNE1
- SYNE2
- TCAP
- TNPO3
- TRAPPC11
- TRIM32
- TTN
- VCP
- VMA21