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Dystonias (32-gene panel, NGS)

Code: 10028

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(32 genes)

  • ANO3
  • ATP1A3
  • CACNA1B
  • CIZ1
  • COL6A3
  • DRD2
  • DRD5
  • GCH1
  • GNAL
  • HPCA
  • KCTD17
  • KMT2B
  • MECR
  • MR1
  • PANK2
  • PLA2G6
  • PNKD
  • PRKN
  • PRKRA
  • PRRT2
  • SCP2
  • SGCE
  • SLC2A1
  • SLC30A10
  • SLC39A14
  • SLC6A3
  • SPR
  • TAF1
  • TH
  • THAP1
  • TOR1A
  • TUBB4A

Specialties

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