Haematology

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In many cases, identifying molecular alterations in haematological-oncological diseases is essential in order to confirm the diagnosis, establish a prognosis, help to select a treatment for each patient, and monitor the disease.

NIMGenetics offers conventional tests, such as karyotyping, as well as more advanced technologies, such as array CGH and NGS panels to test for these diseases.

KARYONIM®  LEUKAEMIA

Genomic platform designed by NIMGenetics to identify biomarkers in chronic lymphocytic leukaemia (CLL), combining array CGH and SNP technologies.

  • Array CGH has proven to be the most effective technology in this type of leukaemia. It increases the diagnostic yield by 20% compared to FISH testing. This is primarily due to its increased ability to detect and delimit CNVs, and the fact that array CGH examines the whole genome simultaneously, and not just the regions included in FISH testing.
  • Its powerful design provides complete coverage of the usual regions, as well as other genes of prognostic interest in CLL, showing a high detection capacity (130kb) in both contexts. Furthermore, the genes included in the Cancer Consensus are fully covered.
  • SNP tests are also able to provide information on clonality and loss of heterozygosity.

This test is performed on peripheral blood or tumour samples, depending on the indication.

Turnaround time: 20 working days from receipt of the sample.
Reference: ONC2006

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

MOLECULAR DIAGNOSTICS

Molecular biology allows us to determine the presence of and/or quantify fusion proteins secondary to chromosomal rearrangements/translocations and identify mutations in various genes involved in haematological malignancies.

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CYTOGENIC DIAGNOSIS

Conventional and molecular cytogenetics are currently the first-choice techniques for the genetic testing of various haematological diseases. The results of these tests are essential in order to classify these conditions correctly. Their value as a prognostic biomarker has been demonstrated in various haematological diseases, such as acute leukaemia, myelodysplastic syndromes, chronic lymphocytic leukaemia and multiple myeloma, among others.

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