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 Microbiology 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