Hemophilia A, Molecular Analysis for Inversion, Diagnosis and Carrier Detection
Method Description Describes how the test is performed and provides a method-specific reference
Southern blot analysis with the DNA probe 482.6 is used to detect an inversion in a portion of the 3' end of the F8 gene. (Antonarakis SE, Rossiter JP, Young M, et al: Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995;86:2206-2212; Naylor J, Brinke A, Hassock S, et al: Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions. Hum Molec Gent 1993;2:1773-1778; Lakich D, Kazazian HH, Antonarakis SE, et al: Inversions disrupting the Factor VIII gene are a common cause of severe hemophilia A. Nat Genet 1993;5:236-241)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Friday; 12 p.m.