Arthrogryposis and congenital contractures (20-gene panel, NGS)
Code: 3262
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)
- 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(20 genes)
- ADCY6
- CHST14
- CNTNAP1
- ECEL1
- ERBB3
- FBN2
- FKBP10
- GLE1
- MYBPC1
- MYH3
- MYH8
- NALCN
- PIEZO2
- PIP5K1C
- PLOD2
- SYNE1
- TNNI2
- TNNT3
- TPM2
- ZC4H2