Hereditary spastic paraplegia (77-gene panel, NGS)
Code: 3219
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
- 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. Clinical history and family history are mandatory.
Genes tested(77 genes)
- ABCD1
- ADAR
- AFG3L2
- AIMP1
- ALDH18A1
- ALS2
- AMPD2
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- AP5Z1
- ARG1
- ARL6IP1
- ARSI
- ATL1
- ATP13A2
- B4GALNT1
- BICD2
- BSCL2
- C12orf65
- C19orf12
- CCT5
- CYP27A1
- CYP2U1
- CYP7B1
- DDHD1
- DDHD2
- ENTPD1
- ERLIN1
- ERLIN2
- FA2H
- FARS2
- GBA2
- GJC2
- HACE1
- HSPD1
- KIF1A
- KIF1C
- KIF5A
- L1CAM
- MAG
- MARS1
- NIPA1
- NKX6-2
- NT5C2
- OPA3
- PGAP1
- PLP1
- PNPLA6
- POLR3A
- REEP1
- REEP2
- RNASEH2B
- RTN2
- SACS
- SERAC1
- SLC16A2
- SLC25A46
- SLC2A1
- SLC33A1
- SPART
- SPAST
- SPG11
- SPG21
- SPG7
- TECPR2
- TFG
- TUBB4A
- USP8
- VAMP1
- VPS37A
- WASHC5
- WDR45B
- WDR48
- ZFYVE26
- ZFYVE27