Tumor genetics

The diagnostic standard for hematological malignancies includes conventional chromosome analysis and fluorescence in situ hydridization (FISH). With these methods somatic alterations of the DNA can be identified and the karyotype can be established. Additionally, NGS-based analysis is used for the identification of specific mutations.

Diagnostics for hematological neoplasms

The determination of the karyotype and gene mutational analyses are necessary for the diagnosis and classification of hematologiocal neoplasms. Moreover, these diagnostic tools have prognostic and therapeutic significance, which means they can be utilized to support the selection of risk-adapted treatments and for patient follow-ups (early relapse detection).

​In addition to chromosome analysis, FISH analyses are used to answer specific questions. The FISH technique allows the ascertainment of structural chromosomal changes and the examination of cells in a non-dividing state (interphase nuclei). In many cases, FISH can be used to verify the treatment response.

​Next generation sequencing (NGS) based gene panel diagnostics facilitates the simultaneous sequencing of many genes. Our current panel includes 179 genes with relevance in myeloid and lymphoid neoplasms. Based on the WHO, various clinical practice guidelines and the current state of knowledge, we will compile appropriate subpanels for each specific entity and will update and optimize these subpanels continuously. Additionally, based on our 179 gene panel, we can create customized subpanels according to the specifications of our clients.

Sample material

  • Peripheral blood in heparin
  • bone marrow aspirate

​For more information, please visit the Preanalytics page or download our information guide as PDF under the following link:

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Information guide →

Services Cancer Genetics

  • Chromosome analysis
  • optional FISH
  • Panel mutation analysis

Chronic Myeloid Leukemia (CML)

  • Chromosome Analysis
  • FISH: BCR-ABL1 qualitative
  • PCR: BCR-ABL1 quantitative (PCR by partner laboratory; RNA-based, please transport quickly!)
  • Mutation analysis in TKI resistance (RNA-based, please transport quickly!)

 

Chronic Neutrophilic Leukemia (CNL)

  • Chromosome Analysis
  • optional FISH
  • CSF3R mutation analysis
  • Panel mutation analysis

 

Polycythemia vera (PV)

  • Chromosome analysis (in the case of a suspected diagnosis including BCR-ABL1 exclusion)
  • optional FISH
  • Step diagnostics:
    • JAK2 Exon 14 / Exon12 mutation analysis
    • CALR mutation analysis
    • MPL mutation analysis
  • Panel mutation analysis

 

Primary myelofibrosis (PMF)

  • Chromosome analysis (in the case of a suspected diagnosis including BCR-ABL1 exclusion)
  • optional FISH
  • Step diagnostics:
    • JAK2 Exon 14 / Exon12 mutation analysis
    • CALR mutation analysis
    • MPL mutation analysis
  • Panel mutation analysis

 

Essential thrombocythemia (ET)

  • Chromosome analysis (in the case of a suspected diagnosis including BCR-ABL1 exclusion)
  • optional FISH
  • Step diagnostics:
    • JAK2 Exon 14 / Exon12 mutation analysis
    • CALR mutation analysis
    • MPL mutation analysis
  • Panel mutation analysis

 

Myeloproliferative neoplasia (MPN) ND.

  • Chromosome analysis (in the case of a suspected diagnosis including BCR-ABL1 exclusion)
  • optional FISH
  • Step diagnostics:
    • JAK2 Exon 14 / Exon12 mutation analysis
    • CALR mutation analysis
    • MPL mutation analysis
  • Panel mutation analysis

  • Chromosome analysis and FISH
  • KIT mutation analysis

  • Chromosome analysis and FISH (PDGFRA, PDGFRB, FGFR1, JAK2 translocations)

Chronic myelomonocytic leukemia (CMMoL)

  • Chromosome Analysis
  • optional FISH
  • Panel mutation analysis

 

Atypical Chronic Myeloid Leukemia (aCML)

  • Chromosome Analysis
  • optional FISH
  • Panel mutation analysis

Chronic Lymphocytic Leukemia (CLL)

  • Chromosome analysis and FISH including TP53 deletion
  • TP53 deletion (FISH)
  • TP53 mutation analysis
  • IgVH mutation analysis

Splenic marginal zone lymphoma (splen. MZL)

  • Chromosome analysis and FISH

Splenic lymphoma with villous lymphocytes (SLVL)

  • Chromosome analysis and FISH

Hairy cell leukemia (HZL)/ hairy cell leukemia variant (HZLv)

  • Chromosome analysis and FISH
  • BRAF mutation analysis

IgM MGUS (Monoclonal Gammopathy of Unclear Significance)/ Lymphoplasmocytic Lymphoma (LPL)/ Waldenstrom's Disease

  • Chromosome analysis and FISH
  • MYD88 mutation analysis
  • CXCR4 mutational analysis

non-IgM MGUS (Monoclonal Gammopathy of Unclear Significance)/ Plasmocytoma (PZ)/ Multiple Myeloma (MM)

  • Chromosome analysis and FISH

Nodal marginal zone lymphoma (MZL)/ Mucosa Associated Lymphatic Tissue (MALT) lymphoma

  • Chromosome analysis and FISH

Follicular Lymphoma (FL)

  • Chromosome analysis and FISH

Mantle cell lymphoma (MCL)

  • Chromosome analysis and FISH

Diffuse large B-cell lymphoma (DLBCL)

  • Chromosome analysis and FISH

High grade non-Hodgkin lymphoma (NHL) ND

  • Chromosome analysis and FISH

Burkitt lymphoma (BL)

  • Chromosome analysis and FISH

T-cell prolymphocytic leukemia (T-PLL)

  • Chromosome analysis and FISH

T cell leukemia with granular lymphocytes (T-LGL)

  • Chromosome analysis and FISH

Sézary Syndrome

  • Chromosome analysis and FISH

T-cell non-Hodgkin lymphoma (T-NHL) ND.

  • Chromosome analysis and FISH

  • Chromosome analysis and FISH