FV Leiden

1
FV Leiden PT 20210 Testing

• Both Factor V Leiden and Prothrombin 20210
  mutations are found in similar populations. It
  is therefore critical that both molecular assays
  be ordered when performing a thrombophilia
  work-up. Recently a laboratory randomly sampled
  119 DNA samples 106 (89.1) had only FV Leiden
  ordered, 43 (36.1) had only PT 20210 ordered,
  and 29 (24.4) had both ordered. Of the 106 FV
  Leiden only orders, 4 samples were found to be
  heterozygous for the PT 20210 mutation (3.8).
  Therefore a diagnosis was missed in 3.8 of
  samples submitted for molecular thrombophilia
  testing.

M Ledford-Kraemer Personal Communications
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