Arthrogryposis (70-gene panel, NGS)
Code: 10168
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(70 genes)
- ACTA1
- ADGRG6
- AGRN
- BIN1
- CASK
- CFL2
- CHAT
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- CHST14
- CHUK
- CNTNAP1
- COL6A2
- COLQ
- DHCR24
- DOK7
- DPAGT1
- ECEL1
- EGR2
- ERBB3
- ERCC5
- ERCC6
- EXOSC3
- FBN2
- FHL1
- FKBP10
- FKTN
- FLVCR2
- GBE1
- GFPT1
- GLE1
- KAT6B
- KLHL40
- LMNA
- MPZ
- MTM1
- MUSK
- MYBPC1
- MYH2
- MYH3
- MYH8
- NALCN
- NEB
- PIEZO2
- PLOD2
- PMM2
- RAPSN
- RARS2
- RIPK4
- SCO2
- SELENON
- SNAP29
- TGFB3
- TK2
- TNNI2
- TNNT1
- TNNT3
- TPM2
- TPM3
- TRPV4
- TSEN2
- TSEN54
- UBA1
- VIPAS39
- VRK1
- ZBTB42
- ZC4H2