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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues

Fig. 2

Flow chart for laboratory processing of POC specimens and diagnostic yield from karyotyping, microarray and exome sequencing analyses. The abnormality detection rate for chromosomal abnormality, pCNV, monogenic pathogenic/likely pathogenic (P/LP) variants and variant of uncertain significance favor pathogenic (VUSfp) was from this study and references #3 and #23. Solid arrow for current workflow and dash arrow for an alternative option (Chr. Abn chromosomal abnormality, CF culture failure, FFPE formalin-fixed paraffin-embedded, NK normal karyotype, POC products of conception, AP absence of pCNV)

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Molecular Cytogenetics

ISSN: 1755-8166