Dystroglycanopathies (16-gene panel, NGS)
Code: 10172
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(16 genes)
- B3GALNT2
- B3GNT2
- DAG1
- DPM1
- DPM2
- DPM3
- FKRP
- FKTN
- GMPPB
- ISPD
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- RXYLT1