Eurofins Biomnis code

ADAM

Synonyms

• Syndrome Upshaw-Schulman
• Purpura thrombotique thrombocytopénique
• ADAMTS13
• vWFCP
• Willebrand factor cleaving protease
• Upshaw-Schulman syndrome
• PTT
• Willebrand factor protease
• Cleaving protease - Willebrand factor

Clinic significance

Physiologically, the role of ADAMTS13 is to limit the size (and therefore platelet adhesion) of von Willebrand factor (VWF) multimers, essential for platelet aggregation in the microcirculation. In Upshaw-Schulman syndrome, severe functional ADAMTS13 deficiency occurs (plasma level below 5%), a predisposing factor for the accumulation of large VWF multimers in plasma and therefore the spontaneous formation of platelet thrombi in microvessels. This ADAMTS13 deficiency is hereditary, associated with ADAMTS13 gene mutations (60% substitutions and 40% terminal mutations) along the entire length of the gene and transmitted according to a recessive autosomal mode.

Prenalytics

• 2 x 2 mL
• citated plasma
• FROZEN

Further information

• Plasma with platelets removed by double centrifugation: 2500 g 15 min and settled plasma. The patient must not receive heparin.
• Enclose the specific clinical information form (R9-INTGB : ADAMTS13 testing)

Documents to download

• Clinical data sheet

Methodology

Dosage immunologique en chimiluminescence

Turnaround time

1 week