Technology

The BioSeq Leukemia combines Ion Torrent DNA ultrasequencing technology and a 400K CGH+SNP Microarray in a test exclusively developed by the Cancer Genetics Laboratory. This analysis allows you to detect the most relevant alterations of the leukemia which differentiate patients’ prognosis and response to treatments and which can, therefore, guide their evolution.

Ultrasequencing

The selected genetic panel contains 48 genes and 3,200 mutations.

A panel of 48 genes and 3,200 mutations:

ABL1 ASXL1 BRAF CBL CDKN2A CEBPA CREBBP
CRLF2 CSF1R CTCF DNM2 DNMT3A EED EP300
ETV6 EZH2 FBXW7 FLT3 GATA1 HRAS IDH1
IDH2 IKZF1 IKZF3 IL7R JAK2 JAK3 KIT
KRAS MPL NOTCH1 NPM1 NRAS PAX5 PDGFRA
PHF6 PTEN PTPN11 RELN RUNX1 SF3B1 SRSF2
SUZ12 TAL1 TET2 TP53 U2AF1 WT1

Note: This panel does not sequence the 48 genes completely, only those mutations considered to be key ones. Any mutations beyond these regions will not be detected. Average of 2000X Coverage. The detection limit is 5% with a 500X coverage, and 10% with a 200X coverage.

To accomplish greater specificity and sensitivity, BioSequence confirms mutations by castPCR, Sanger sequencing or pyrosequencing.

Microarray

The 400K CGH+SNP Microarray is focused on 2300 cancer genes, in addition to whole genome coverage.

This analysis detects deletions, duplications or amplifications, and loss of heterozygosity (LOH). Also, has the ability to detect copy-number neutral LOH. Additionally, able to detect single exon deletions, duplications or amplifications in the targeted cancer genes.

Benefits include greater resolution than traditional chromosome and FISH analyses. Unlike traditional chromosome analysis, does not require dividing cells.

For any inquiry, please contact us by filling out this form or call on +34 961 027 432.