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Luigi Villa Foundation
     
   
   
   
   
   
   
     
     
     
     
     
 

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< rare disorder

 
DIAGNOSIS OF RARE BLEEDING DISORDER
 
 

Collection of anamnesis data and level of the hemorrhagic manifestations through a standard evaluation questionnaire

Phenotype diagnosis:
  - Suitable coagulation tests for each protein to measure the functional activity. The screening tests used are: the PT (time for the prothrombin), investigating the extrinsic way and the PTT (time for the partial thromboplastin), investigating the intrinsic way. If one of the two tests is positive the alteration has to be investigated in those factors to which the test is sensitive.
  - If the I Filter tests are normal, in the presence of a clinical hemorrhagic history, II Filter tests are performed: FXIII assay, assay of the second antiplasmin, assay of the plasminogen activator, assay of the platelet factor, thrombin time (TT), reptilase time.
  - Assay of the antigen level of the plasmatic protein, made by means of the ELISA test, which is based on the use of the policlonic antibodies.
  - Classification of the deficiency: generally the deficiencies of the coagulation factors are classified in two types: type I (low levels of antigens and coagulation activity), type II (normal antigen with absent coagulation activity).
Genetics diagnosis:
  - Amplification through PCR (Polymerase Chain Reaction) of the regions interested by the studied gene.
  - Automatic sequence of the fragments obtained with PCR for the revelation of the eventual mutation.

 

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