CMDL Test List

Molecular Hematopathology

HopeSeq Heme Comprehensive
Mutations (full exon of 523 genes), copy number variations (CNV), tumor mutation burden (TMB), gene fusions (>5,000 selected rearrangements in 165 genes) and expression (71 genes).
AML Rapid Genomics Assay
Simultaneous testing of: FLT3, NPM1, IDH1, IDH2, CEBPA, KIT, TP53, CBFB/MYH11 translocation (inv(16)), RUNX1/RUNX1T1 translocation (t(8; 21)), BCR/ABL translocation (t(9;22))
Myeloproliferative Neoplasm Assay
Concurrent mutation analysis of JAK2, CALR and MPL genes by NGS
Individual Molecular Testing for Hematologic Malignancies

  • BCR/ABL1 Kinase Mutation Analysis by NGS
  • CALR Mutation Analysis
  • CEBPA Mutation Analysis
  • FLT3 Mutation Analysis, with ITD signal ratio
  • IDH1 and IDH2 Mutation Analysis
  • JAK2 Mutation Analysis
  • KIT Mutation Analysis
  • MPL Mutation Analysis
  • NPM1 Mutation Analysis
  • TP53

Molecular Hematopathology Specimen Requirements

Gene Rearrangement Assays

  • IGH and IGK gene arrangements by PCR
  • IGHV hypermutation analysis by NGS
  • TCR-ϒ and TCR-β gene rearrangements by PCR
  • TCR-ϒ and TCR-β gene sequencing by NGS

Quantitative RT-PCR Assays

  • BCR/ABL translocation (t(9;22))
    p190 BCR/ABL
    p210 BCR/ABL (reporting on International Scale)
  • CBFB/MYH11 translocation (inv(16))
  • Minimal Residual Disease (MRD) NPM1 Known Mutations
  • PML/RARA translocation (t(15;17))
  • RUNX1/RUNX1T1 translocation (t(8;21))
Molecular Oncology

HopeSeq Solid Tumors Comprehensive
Mutations (full exon of 523 genes), CNV, microsatellite instability (MSI), TMB, gene fusion (>5,000 selected rearrangements in 165 genes) and PD-L1 IHC (upon request).

HopeSeq Glioma Comprehensive
Mutations (full exon of 523 genes), CNV, MSI, TMB, gene fusion (>5,000 selected rearrangements in 165 genes), MGMT methylation analysis and PD-L1 IHC.

HopeSeq FNA Comprehensive (Lung, Thyroid, Upper GI)
Mutations (full exon of 523 genes), CNV MSI, TMB, gene fusion (>5,000 selected rearrangements in 165 genes). Expression of ephithelial markers will be evaluated for specimen sufficiency prior to NGS testing. Gene expression assay will be performed for adequacy assessment of FNA samples for this panel.

Molecular Oncology Specimen Requirements

Individual Molecular Oncology Testing

  • MGMT promoter methylation
  • MLH1 gene, Methylation Analysis
Molecular Microbiology

Quantitative Viral Assays by PCR

  • Adenovirus (ADV)
  • BK Virus (BKV)
  • Cytomegalovirus (CMV)
  • Epstein-Barr virus (EBV)

Molecular Mibrobiology Specimen Requirements

Molecular Genetics

HopeSeq Germline Confirmatory Panel
This panel confirms the presence of any suspicious cancer predisposition/germline alterations identified by HopeSeq Heme and Solid Tumor panels.

Molecular Genetics Specimen Requirements