hassx.blogg.se - Fusion plex

#Fusion plex software#

Extracted RNA: 1 microgram (minimum), suspended in water.

Bone Marrow: 1-3 ml in EDTA (lavender top vacutainer).

Leukemic Blood: 1-3 ml in EDTA (lavender top vacutainer).

This discussion should be considered in the context of the clinical phenotype. The laboratory can assist the ordering provider in determining whether other types of testing, such as DNA sequencing for point mutations, are appropriate. The failure to detect an alteration at any locus does not exclude the diagnosis of any of the disorders represented on the targeted panel. This test is also has limited ability to detect low-level mosaicism (<10%). This assay does not detect gene fusions located outside the targeted gene regions. Test Limitations: The FusionPlex® Pan-Heme Panel is used in this test for the sole purpose of identifying gene fusions with both known and unknown fusion partners of solid tumor-associated gene targets. Additional details about this assay can be found at.

Human Genome build GRCh37 (hg19) is used.

#Fusion plex software#

FASTQ files with base call and quality information of minimum 4.5 million paired-end sequence reads are processed using Archer Analysis software to annotate gene fusions and variants found within these genes.

Paired-end sequencing of the enriched library is performed using Mid Output v2 (Illumina) chemistry on a NextSeq sequencer according to the manufacturer’s recommended protocol (Illumina, Inc. The library is quantitated using quantitative PCR and normalized for next generation sequencing. A library of DNA fragments is constructed for targeted capture of cDNA from fusion genes using custom designed FusionPlex® Pan-Heme panel and reagent kit (ArcherDX, Boulder, CO). First- and second-strand complementary DNA (cDNA) synthesis is performed. Total nucleic acid (TNA) is extracted from the sample using standard procedures.

This test can also be ordered for a single gene or a subset of 2-10 genes, chosen by the ordering clinician based on clinical and pathological findings. The FusionPlex® PanHeme Panel is based on next generation sequencing of RNA (cDNA) from bone marrow, leukemic blood, or lymph node tissue to detect somatic oncogenic gene fusions involving any of over 100 genes associated with hematological malignancies, without prior knowledge of the fusion partners or the breakpoints of the translocations. leukemias, lymphomas, myelomas, plasma cell neoplasms) frequently have chromosome rearrangements and gene fusions that are important in establishing a diagnosis, predicting prognosis, and guiding therapy choices. ABL1, ABL2, ALK, BCL11B, BCL2, BCL6, BCR, BIRC3, CBFB, CCND1, CCND3, CDK6, CHD1, CHIC2, CIITA, CREBBP, CRLF2, CSF1R, DEK, DUSP22, EBF1, EIF4A1, EPOR, ERG, ETV6, FGFR1, GLIS2, IKZF2, IKZF3, JAK2, KAT6A, KLF2, KMT2A, MALT1, MECOM, MKL1, MLF1, MLLT10, MLLT4, MYC, MYH11, NF1, NFKB2, NOTCH1, NTRK3, NUP214, NUP98, P2RY8, PAG1, PAX5, PBX1, PDCD1LG2, PDGFRA, PDGFRB, PICALM, PML, PRDM16, PTK2B, RARA, RBM15, ROS1, RUNX1, RUNX1T1, SEMA6A, SETD2, STIL, TAL1, TCF3, TFG, TP63, TYK2, ZCCHC7 Test Guide