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Hereditary bone marrow failure syndromes (51-gene panel, NGS)

Code: 10153

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(49 genes)

  • BRCA2
  • BRIP1
  • CSF3R
  • CTC1
  • DKC1
  • ELANE
  • ERCC4
  • FANCA
  • FANCB
  • FANCC
  • FANCD2
  • FANCE
  • FANCF
  • FANCG
  • FANCI
  • FANCL
  • FANCM
  • G6PC3
  • GATA2
  • GFI1
  • HAX1
  • MPL
  • NHP2
  • NOP10
  • PALB2
  • RAD51C
  • RBM8A
  • RPL11
  • RPL35A
  • RPL5
  • RPS10
  • RPS19
  • RPS24
  • RPS26
  • RPS7
  • RTEL1
  • RUNX1
  • SBDS
  • SBF2
  • SLX4
  • SRP72
  • TERC
  • TERT
  • TINF2
  • USB1
  • VPS45
  • WAS
  • WRAP53
  • XRCC2

Specialties

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