SNP/CGH Microarray

SNP/CGH Microarray Digital Karyotype Analysis

SNP (Single Nucleotide Polymorphism) testing can identify a single DNA sequence change occurring in a single nucleotide. CGH (Comparative Genomic Hybridization) detects unbalanced chromosomal abnormalities (gains or losses in chromosomal material). HematoLogics offers a single platform to perform both SNP and CGH microarray testing in a single test. This combination provides more powerful look at chromosomal abnormalities than either alone. Suboptimal samples can be identified by flow cytometric quantification of tumor and enhanced to ensure that the test sample will work with the test. 180,000 genomic loci are analyzed including 20,000 cancer associated CGH and 60,000 SNP probes to produce the most complete analysis available.


  1. SNP/CGH microarray combo for LOH and clonal evolution detection
  2. Cell enrichment (clonal plasma, progenitor or lymphoid populations) for accurate analysis of aberrant cell sub-populations
  3. Turn-around time in only 5-7 days


  1. Myeloma/MGUS: plasma cell enrichment essential for determining genomic aberrations and prognostic risk association (see Zehentner et al AJCP Oct 2012). Enrichment using CD138 beads or CD38 flow cell sorting
  2. MDS: – Detection of clinically relevant LOH (loss of heterozygosity regions; e.g. 7q LOH  in cases with normal cytogenetic findings. Enrichment of CD34+ progenitor cells for increased detection sensitivity
  3. CLL: -Detection of gains and losses (potential substitute for FISH analysis). Detection of otherwise cryptic 11q deletions
    Detection of otherwise cryptic, clinically relevant micro-deletions and duplications
    Prognostic categorization of 13q deletions
    Enrichment (if needed) uses CD5/CD19 flow cell sorting
  4. AML and other leukemias: – Detection of clonal evolution. Detection of other cryptic LOH and micro-deletions/duplications

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