This test allows the detection of DNA sequence variants in the coding region of the HBB gene in genomic DNA isolated from human samples for the purpose of clinical diagnosis of Beta Thalassemia and Sickle cell anemia. This test can be additionally useful for carrier testing and help guide treatment strategies.
This test allows the detection of DNA sequence variants in the coding region of the HBB gene in genomic DNA isolated from human samples for the purpose of clinical diagnosis of Sickle cell anemia. This test can be additionally useful for carrier testing and help guide treatment strategies.
This test allows the detection of deletions or duplication in the HBA1 and HBA2 genes in genomic DNA isolated from human samples for the purpose of clinical diagnosis of Alpha Thalassemia. This test can be additionally useful for carrier testing.
The calcium-binding endoplasmic reticulin chaperone protein, calreticulin (CALR), is somatically mutated in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60% to 88% of patients with JAK2-negative primary myelofibrosis (PMF). The majority of mutational changes involve a variety of insertion or deletion mutations in exon 9 of the calreticulin gene: approximately 53% of all CALR mutations are a 52 bp deletion (type-1) while the second most prevalent mutation (approximately 32%) contains a 5 bp insertion (type-2). This assay is designed to detect the presence of deletions, insertions and sequence variations in exon 9 of the CALR gene.
The Janus kinase 2 gene (JAK2) codes for a tyrosine kinase (JAK2) that is associated with the cytoplasmic portion of a variety of transmembrane cytokine and growth factor receptors important for signal transduction in hematopoietic cells. Signaling via JAK2 activation causes phosphorylation of downstream signal transducers and activators of transcription (STAT) proteins. Ultimately leading to cell growth and differentiation. BCR-ABL1-negative myeloproliferative neoplasms (MPN) frequently harbor an acquired single nucleotide variant in JAK2 known as V617F which is detected in this test.
The Janus kinase 2 gene (JAK2) codes for a tyrosine kinase (JAK2) that is associated with the cytoplasmic portion of a variety of transmembrane cytokine and growth factor receptors important for signal transduction in hematopoietic cells. Deletions in exon 12 is used for the diagnosis and follow-up of myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and chronic neutrophilic leukemia (CNL).
MPL (myeloproliferative leukemia virus oncogene homology) belongs to the hematopoietin superfamily and enables its ligand, thrombopoietin, to facilitate both global hematopoiesis and megakaryocyte growth and differentiation. MPL W515 mutations detected in this test are present in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET) which are expected to be present at a frequency of approximately 5%.
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