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Marfan syndrome (21-gene panel, NGS)

Code: 3288

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(21 genes)

  • ACTA2
  • CBS
  • COL11A1
  • COL11A2
  • COL2A1
  • COL3A1
  • COL5A1
  • COL5A2
  • COL9A1
  • COL9A2
  • COL9A3
  • FBN1
  • FBN2
  • MYH11
  • PLOD1
  • SLC2A10
  • SMAD3
  • TGFB2
  • TGFB3
  • TGFBR1
  • TGFBR2

Specialties

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