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Chondrodysplasia punctata (9-gene panel, NGS)

Code: 10501

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(9 genes)

  • AGPS
  • ARSE
  • CSTA
  • GNPAT
  • KRT6A
  • KRT6B
  • LBR
  • PEX14
  • PEX19

Specialties

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