Estimating the cost of redundancy in molecular diagnostics: the case of activated protein C resistance and factor V Leiden.
BACKGROUND
The activated protein C resistance--sensitivity ratio in the presence of Factor V deficient plasma (APC-SR/Factor V) exhibits a high sensitivity for factor V Leiden mutation and has been proposed as the diagnostic approach of choice, as an alternative to genetic tests, to evaluate activated protein C resistance. A survey, including 4969 requests, was performed on the activity of a typical Molecular Diagnostics Laboratory in order to estimate the costs due to reagents, instrumentation and personnel.


METHODS
The global costs of three hypothetical diagnostic approaches were compared: (A) exclusive molecular test for FV Leiden; (B) APC-SR alone; (C) APC-SR and the exclusive confirmation of positive results with molecular test.


RESULTS
The global cost for each patient with the three approaches investigated were respectively 42.20 euros (A), 1.09 euros (B), and 433 euros (C). The cost for finding a patient with factor V Leiden mutation was 549.00 euros for A, 14.18 euros for B, and 56.32 euros for C. It was calculated that a decrease of 97.42% and 89.74% can be obtained using the approaches B and C, respectively. The difference in cost between B and C can be justified by the avoidance of false positive cases (6%) and by the impossibility of distinguishing homozygous from heterozygous patients using APC-SR exclusively (B).


CONCLUSIONS
In the case of suspected phenotype APC resistance, we suggest a laboratory approach, which provides the combined and sequential use of ProCGlobal/FV analysis and a subsequent genetic test for positive patients.
Dept of Medical Sciences, University Amedeo Avogadro of East Piedmont, Novara, Italy. roberta.rolla@med.unipmn.it
Roberta
R
Rolla
Matteo
M
Vidali
Silvia
S
Meola
Paola
P
Pollarolo
Patrizia
P
Pergolini
Giorgio
G
Bellomo
D020016:Activated Protein C Resistance / Q000175:diagnosis* / Q000235:genetics; D005165:Factor V / Q000032:analysis*; D005166:Factor V Deficiency / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006824:Hybridization, Genetic; D025202:Molecular Diagnostic Techniques / Q000191:economics / Q000379:methods*; D011237:Predictive Value of Tests; D011486:Protein C / Q000032:analysis*; D012372:ROC Curve; D015203:Reproducibility of Results; D013673:Technology Assessment, Biomedical
D011486:Protein C; C095381:factor V Leiden; D005165:Factor V