Molecular Genetics Tests

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Methodology Test Name Test Description Print View
Molecular ABL1 Kinase Domain Mutation Analysis RT-PCR and sequencing of the BCR-ABL1 fusion transcript for qualitative detection of mutations associated with imatinib resistance View
Molecular B & T Cell Gene Rearrangement PCR for detection of clonal IgH, Ig kappa, and T cell receptor gene gamma gene rearragements. View
Molecular B-Cell Gene Rearrangement Detection of clonal IgH and Ig kappa gene rearragements by PCR of IgH framework regions 1, 2, 3 and joining regions, Ig kappa FR3 and Jk regions. View
Molecular BCL1 Translocation, t(11;14) PCR and detection of IGH-CCND1 t(11;14) chromosomal translocation.  View
Molecular BCL2 Translocation, t(14;18) Real-time PCR for qualitative detection of IGH/BCL2, t(14;18) translocations involving the mbr, mcr, and icr breakpoint regions. View
Molecular BCR-ABL1 Translocation, t(9;22) – quantitative Real-time PCR for detection of t(9;22) BCR/ABL fusion transcripts that result in p190 (E1) or p210 (E13, E14) fusion proteins. Analytical sensitivity is 1 tumor cell in 100,000 normal cells. Log reduction score is reported. View
Molecular BRAF Mutation Analysis Bi-directional sequencing of exon 15 of the BRAF gene, which includes qualitative detection of V600 mutations E, K, D, and others, plus other significant exon 15 mutations. For solid tumors, tumor enrichment is performed before extraction. View
Molecular CEBPA DNA sequencing to detect single and double mutations within the CEBPA coding region from blood or Bone Marrow specimens. View
Molecular EGFR Mutation Analysis Bi-directional sequencing of exons 18-21 of the EGFR gene for detection of EGFR-activating mutations and TKI resistance mutations in these exons. Tumor enrichment is performed before extraction.  View
Molecular IgVH Mutation Analysis RT-PCR and bi-directional sequencing of the variable region of the immunoglobulin heavy chain for detection of mutation from germline sequence. The mutated VH gene family is identified in positive reports (>3% sequence deviation). Mutation may not be detectable in specimens containing <10% clonal B-cells. View
Molecular JAK2 Exon 12 Mutation Analysis Qualitative detection of four exon 12 mutations in JAK2 by real-time PCR. Test is available separately or as part of MPN Reflex Panel. View
Molecular KRAS & BRAF Mutation Analysis Concurrent analysis of KRAS and BRAF gene regions including KRAS exons 1 and 2 (with mutation detection in codons 12, 13, and 61) and BRAF exon 15 to detect V600 mutations and more. Tumor enrichment is performed before extraction. View
Molecular KRAS Mutation Analysis Bi-directional sequencing of exons 1 and 2 of the KRAS gene, which includes detection of mutations in codons 12, 13, and 61.  Tumor enrichment is performed before extraction. View
Molecular MPL Mutation Analysis Qualitative detection of the W515 mutations by real-time PCR. Test is available separately or as part of MPN Reflex Panel. View
Molecular MPN Reflex Panel 3-step reflex panel with qualitative testing for JAK2 V617F mutation, then JAK2 exon 12 mutations, then MPL W515 mutations. Test components are available separately. View
Molecular PML-RARA Translocation, t(15;17) Qualitative detection of the three variant translocations with t(15;17) by reverse transcription followed by real-time PCR. The PML/RARA fusion types are bcr1 (long), bcr2 (variable), and bcr3 (short). View
Molecular T-Cell Gene Rearrangement Detection of clonal T-cell receptor gamma gene rearrangements by PCR of variable and joining regions. View