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Arthrogryposis and congenital contractures (20-gene panel, NGS)

Code: 3262

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
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(20 genes)

  • ADCY6
  • CHST14
  • CNTNAP1
  • ECEL1
  • ERBB3
  • FBN2
  • FKBP10
  • GLE1
  • MYBPC1
  • MYH3
  • MYH8
  • NALCN
  • PIEZO2
  • PIP5K1C
  • PLOD2
  • SYNE1
  • TNNI2
  • TNNT3
  • TPM2
  • ZC4H2

Specialties

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