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Congenital Amegakaryocytic Thrombocytopenia
MPL (myeloproliferative leukemia virus oncogene)
The MPL gene, a historical name, actually encodes TPOR, the thrombopoietin receptor. Mutations in MPL/TPOR cause congenital unresponsiveness to thrombopoietin (TPO) leading to amegakaryocytic thrombocytopenia. In 15 published patients with CAMT, 14 had two mutated MPL genes while 1 had no observed mutations. In the test performed at GeneDx, each of the 12 MPL exons is screened by bi-directional sequence analysis using DNA isolated from 1-5 mL peripheral blood or one pair of GeneDx buccal (cheek) brushes. Test sensitivity for the type of mutations expected in this disorder is estimated at over 95%. This form of thrombocytopenia is not associated with absent radii or TAR syndrome.
Note, blood specimens should not be used for this test post-BMT or within 120 days of a transfusion including white blood cells.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Congenital amegakaryocytic thrombocytopenia, Thrombocytopenia, Bone Marrow Failure, Marrow cMPL, c-MPL, platelet, aplastic anemia
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