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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

Specialties

Book a collection