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Hereditary spastic paraplegia (58-gene panel, NGS)

Code: 10026

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(58 genes)

  • ALDH18A1
  • AMPD2
  • AP4B1
  • AP4E1
  • AP4M1
  • AP4S1
  • AP5Z1
  • ARL6IP1
  • ATL1
  • ATP13A2
  • ATP2B4
  • B4GALNT1
  • BSCL2
  • C12orf65
  • C19orf12
  • CAPN1
  • CCT5
  • CPT1C
  • CYP2U1
  • CYP7B1
  • DDHD1
  • DDHD2
  • ENTPD1
  • ERLIN1
  • ERLIN2
  • FA2H
  • GALC
  • GBA2
  • GJC2
  • HACE1
  • HSPD1
  • IBA57
  • KIF1A
  • KIF5A
  • L1CAM
  • MAG
  • NIPA1
  • NT5C2
  • PLP1
  • PNPLA6
  • REEP1
  • REEP2
  • RTN2
  • SLC16A2
  • SLC33A1
  • SPART
  • SPAST
  • SPG11
  • SPG21
  • SPG7
  • TECPR2
  • TFG
  • USP8
  • VPS37A
  • WASHC5
  • ZFR
  • ZFYVE26
  • ZFYVE27

Specialties

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