Cancer – Genetic Diagnosis

Most neoplastic diseases (cancers) have a genetic cause.

These may be due to chromosome abnormalities, submicroscopic chromosomal rearrangements or mutations in the genome.

Cytogenetic studies are useful in diagnosis, treatment and prognosis of neoplastic diseases. Characteristic cytogenetic abnormalities are recognized as significant elements for disease classification in the 2008 WHO classification of hematological Malignancies.  Specific chromosome abnormalities correlate with particular tumors subtypes. Cytogenetic testing is also useful in monitoring engraftment status and minimal residual disease after bone marrow or hematopoietic stem cell transplantation. Standard karyotype analysis in conjunction with Fluorescence in Situ Hybridization (FISH) is an important and integral component in the diagnosis and management of solid tumors. AGILE provides a comprehensive test menu for diagnosis and evaluation of hematologic malignancies and solid tumors.

Cytogenetic Testing for Neoplastic Disorders

Chromosome abnormalities are dectected by cytogenetic testing which include standard Karyotype analysis and/or Fluorescence In Situ Hybridization (FISH).  Karyotype analysis examines the number and the structure of the chromosomes in the cells.

Individual FISH tests are available for disease specific translocations or gene rearrangements, common numerical and structural abnormalities in specific neoplastic diseases, disease specific gene/locus deletion and amplifications, monitoring engraftment status and minimal residual disease after transplantation.

Benefits of testing:

  • Cytogenetic testing helps provide more accurate diagnosis.
  • Physician’s can select appropriate treatments for patients, based on this test results
  • Provides important prognostic information for the patient
  • Serial testing of the samples from the patient permit the study of genetic changes during the various stages of a patient’s clinical course.
  • Bone marrow transplant patients can benefit from cytogenetic testing to monitor engraftment

Molecular Testing for Neoplastic Disorders

Molecular studies based on RTPCR or Sequencing can help in qualitative and quantiative measurement of the DNA/RNA level changes in the genome. These are helpful in monitoring the progress or the disease and the responsiveness to the treatment.