Test Catalog

Test ID: PHD2    
Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing

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 exons 9 and 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 single nucleotide polymorphisms 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[7]: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[3]:654-659)

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