Inherited thrombocytopenias are a heterogeneous group of disorders characterized by a reduced platelet count often manifesting as bleeding diathesis which subsequently result in impaired haemostasis. Common symptoms include easy or excessive bruising (purpura), petechiae, prolonged bleeding from cuts, spontaneous nose bleeds, hematuria, and menorrhagia in women. Inherited thrombocytopenia syndromes are recognized as a spectrum of clinical disorders, ranging from severe diseases in neonates to mild conditions that are identified incidentally in adults. Thrombocytopenia may be inherited in an autosomal recessive, autosomal dominant or X-linked recessive manner. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.  

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
5106
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA