Cytogenetic abnormalities commonly associated with acute lymphoblastic leukemia (ALL) are detected by fluorescence in situ hybridization (FISH). Probes for TCF3/PBX1 t(1;19), BCR/ABL1-ASS1 t(9;22), CDKN2A (9p21.3), KMT2A (MLL)(11q23.3), ETV6/RUNX1 t(12;21)/(iAMP21), IGH (14q32.3), TP53 (17p13.1) are included in the ALL FISH Profile.

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 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.

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.

Quantitative real-time polymerase chain reaction (PCR) is used to detect the t(9;22) BCR-ABL1 fusion transcripts that result in major (p210), minor (p190), or micro (p230) fusion proteins. Minimal residual disease monitoring results for the major breakpoint transcripts are reported and graphed on the International Scale (IS). Monitoring results for the minor and micro breakpoints transcripts are reported.

Detects ABL1 kinase domain mutations in patients with BCR-ABL1-positive chronic myelogenous leukemia (CML) or acute lymphoblastic leukemia (ALL). RNA is isolated, reverse transcribed to complementary DNA (cDNA), and the DNA sequence of targeted regions of ABL (exons 4, 6-7) is determined using next-generation sequencing (NGS) technology. Analysis includes detection of the common T315I mutation.

Available as a global test only. Markers tested by flow cytometry include  CD123, CD45, CD19, CD34, CD38, CD10, CD22, CD58, CD66C, CD9, CD13, CD33, and CD20.

Available as an add-on in conjunction with, or after, a Diagnostic/Prognostic Profile result has been reported by Genoptix or client. Markers include cCD3, cCD22, CD33, CD34, CD45, CD79a, cMPO and nTdT.