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Hermansky-Pudlak syndrome (18-gene panel, NGS)

Code: 11354

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(18 genes)

  • ABCA3
  • AP3B1
  • BLOC1S6
  • DTNBP1
  • ELMOD2
  • HPS1
  • HPS3
  • HPS4
  • HPS5
  • HPS6
  • NKX2-1
  • SFTPA1
  • SFTPA2
  • SFTPB
  • SFTPC
  • SFTPD
  • TERC
  • TERT

Specialties

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