MOLECULAR STUDY THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL (ADAMTS13) SECUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4022

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	45 days
Information:
The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses. Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease. Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura.
Links:
OMIM Entry - # 274150 - THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
Orphanet- Congenital thrombotic thrombocytopenic purpura due to ADAMTS 13 deficiency
OMIM Entry - - 604134 - A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 13; ADAMTS13

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