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Familial hypercholesterolemia (18-gene panel, NGS)

Code: 10059

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)

  • ABCA1
  • ABCG5
  • ABCG8
  • ALMS1
  • APOA1
  • APOA5
  • APOB
  • APOC2
  • APOC3
  • APOE
  • CREB3L3
  • GPIHBP1
  • LDLR
  • LDLRAP1
  • LIPA
  • LMF1
  • LPL
  • PCSK9

Specialties

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