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Lipodystrophies (17-gene panel, NGS)

Code: 11089

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(17 genes)

  • AGPAT2
  • AKT2
  • BSCL2
  • CAV1
  • CAVIN1
  • CIDEC
  • FBN1
  • KCNJ6
  • LIPE
  • LMNA
  • LMNB2
  • PIK3R1
  • PLIN1
  • POLD1
  • PPARG
  • TBC1D4
  • ZMPSTE24

Specialties

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