Cytogenetic abnormalities commonly associated with multiple myeloma (MM) are detected by fluorescence in situ hybridization (FISH). Probes for CKS1B-CDKN2C (1p32.3/1q21.3), 5q (5q-/-5/+5), 13q (13q-/-13), IGH (14q32.3), and TP53 (17p13.1) are included in the Myeloma Reflex FISH Profile (Enriched). If IGH positive, Genoptix will reflex to IGH/FGFR3 t(4;14), IGH/CCND1 t(11;14), IGH/MAF t(14;16) and IGH/MAFB t(14;20). Plasma cells are enriched from patient’s specimen using immunomagnetic enrichment technology with CD138 antibody.

Cytogenetic abnormalities commonly associated with multiple myeloma (MM) are detected by fluorescence in situ hybridization (FISH). Probes for CKS1B-CDKN2C (1p32.3/1q21.3), 5q (5q-/-5/+5), 13q (13q-/-13), IGH (14q32.3), and TP53 (17p13.1) are included in the Myeloma Reflex FISH Profile. If IGH positive, Genoptix will reflex to IGH/FGFR3 t(4;14), IGH/CCND1 t(11;14), IGH/MAF t(14;16) and IGH/MAFB t(14;20).

Cytogenetic abnormalities commonly associated with multiple myeloma (MM) are detected by fluorescence in situ hybridization (FISH). Probes for CKS1B-CDKN2C (1p32.3/1q21.3), 5q (5q-/-5/+5), 13q (13q-/-13), TP53 (17p13.1), IGH/FGFR3 t(4;14), IGH/CCND1 t(11;14), IGH/MAF t(14;16), IGH/MAFB t(14;20) are included in the Myeloma FISH Profile (Enriched). Plasma cells are enriched from patient’s specimen using immunomagnetic enrichment technology with CD138 antibody.

Cytogenetic abnormalities commonly associated with acute lymphoblastic leukemia (ALL) are detected by fluorescence in situ hybridization (FISH). Probes PDGFRb (5q32), BCR/ABL1-ASS1 t(9;22), JAK2 (9p24.1), EPOR (19p13.2) and CRLF2 (Xp22.33/Yp11.32) are included in the ALL FISH (Ph-like) Profile.

Cytogenetic abnormalities commonly associated with pediatric acute lymphoblastic leukemia (ALL) are detected by fluorescence in situ hybridization (FISH). Probes for Cen 4, Cen 10 (+4/+10), BCR/ABL1-ASS1 t(9;22), KMT2A (MLL)(11q23.3), ETV6/RUNX1 t(12;21)/(iAMP21) and IGH (14q32.3) are included for pediatric cases of ALL.

Detects FLT3 and NPM1 mutations, which are commonly found in acute myeloid leukemia (AML). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region compares the signal intensity of the mutation to the wild-type. Exon 12 of NPM1 is analyzed by PCR and fluorescent fragment size analysis to detect small insertion mutations specific to AML.

Internal Tandem Duplication (ITD) and Tyrosine Kinase Domain (TKD). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region compares the signal intensity of the mutation to the wild-type.

Exon 12 of NPM1 is analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis to detect small insertion mutations specific to AML.

Detection of gene fusion transcripts in Acute Lymphoblastic Leukemia (ALL) from ribonucleic acid (RNA). RNA is isolated from bone marrow aspirates or peripheral blood and the cDNA sequence of targeted regions of the ABL1, ABL2, BCR, CRLF2, CSF1R, ETV6, IL2RB, IL3, JAK2, KMT2A, MEF2D, MLLT10, NUP98, PAX5, PDGFRB, PTK2B, RUNX1 ,TAL1, TCF3, TLX1, TLX3, TYK2, and ZNF384 genes is determined using next-generation sequencing (NGS) technology.