All tests require at least 3mls of whole blood collected in EDTA (red-topped tube). DNA is extracted on all samples, whether or not testing is performed.
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Tests
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Mutations Detected
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Assay details
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Reference Sequence
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JAK2 V617F
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JAK2 c.1849G>T p.Val617Phe
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Allele specific real time PCR assay (Larsen et al. BR. J. Haematology 2007, 136) This assay has a lower limit of detection of 1% mutated alleles.
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NM_004972.4
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CALR
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Any mutations detected are confirmed and identified by Sanger Sequencing
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High resolution fragment analysis (Klampf NEJM 2013, 369). This assay has a lower limit of detection of 1% mutated alleles
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NM_004343.4
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MPL
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High resolution melt analysis (Boyd et al. BR. J. Haematology 2010, 149). This assay has a lower limit of detection of approximately 5% to10% mutated alleles
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NM_005373.3
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JAK2 EXON12
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High resolution melt analysis (Jones et al. Haematologica, 2008, 93). This assay has a lower limit of detection of approximately 5% to10% mutated alleles
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NM_004972.4
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