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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

Specialties

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