Hereditary Erythrocytosis Mutations
Method Description Describes how the test is performed and provides a method-specific reference
DNA is extracted from whole peripheral blood and amplified in 7 separate PCR reactions to cover EPOR exon 8, HIF2A exon 12, and PHD2 exons 1 through 5. PCR products are then sequenced by the Sanger sequencing method and analyzed with sequencing software. Patient sequence results are compared with the genomic reference sequences and the SNPs known to occur in the genes. If a mutation is detected, the messenger RNA reference sequence will be used to determine the amino acid number and resulting amino acid change if there is one.(Percy MJ, McMullin MF, Roques AW, et al: Erythrocytosis due to a mutation in the erythropoietin receptor gene. Br J Haematol 1998;100:407-410; Martini M, Teofili L, Cenci T, et al: A novel heterozygous HIF2a[M535I] mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. Haematologica 2008;93:1068-1071; Percy MJ, Zhao Q, Flores A, et al: A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. PNAS 2006;103:654-659)
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.
Monday through Friday
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test