Clinical Cytogenomics Laboratory

Test NamePanelDisease NameGeneLaboratoryCPT Code
Constitutional Cytogenomic Microarray Analysis22q11.2 Deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; Williams syndrome; 1p36 microdeletion syndrome; Beckwith-Wiedemann syndrome; uniparental disomy; other microdeletion and microduplication conditions
Whole Genome
Clinical Cytogenomics Laboratory 81229
Droplet digital PCR (ddPCR) for deletions and duplicationsSmall deletions (200-200,000 bp), Small duplications (200-1,000,000 bp)
Clinical Cytogenomics Laboratory 81479
FusionPlex PanelSolid tumor, Sarcoma, Lung cancer, Thyroid cancer, Head and neck cancers, Renal cell carcinomas, Mammary gland tumors, Prostate cancer, Brain tumor
AKT1, AKT3, ALK, ARHGAP26, AXL, BRAF, BRD3, BRD4, CALC, CAMTA1, CCNB3, CCND1, CIC, CTNNB1, DDR2, EGFR, EPC1, ERBB2, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR, FKHR, FUS, GLI1, GNAS, HMGA2, HRAS, IDH1, IDH2, INSR, JAZF1, KRAS, KRT20, KRT7, MAML2, MAP2K1, MAST1, MAST2, MEAF6, MET, MKL2, MSMB, MUSK, MYB, NCOA2, NOTCH1, NOTCH2, NRAS, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PDGFB, PDGFRA, PDGFRB, PIK3CA, PLAG1, PPARG, PRKCA, PRKCB, PTH, RAF1, RELA, RET, ROS1, RSPO2, RSPO3, SLC5A5, SS18, STAT6, TAF15, TCF12, TERT, TFE3, TFEB, TFG, THADA, TMPRSS2, TTF1, USP6, YWHAE
Clinical Cytogenomics Laboratory 81445
Neoplasia Cytogenomic Microarray AnalysisChromosomal and sub-chromosomal deletions; Duplications or amplification; Loss of heterozygosity (LOH)
Whole Genome
Clinical Cytogenomics Laboratory 81406
Y Chromosome Microdeletion AnalysisMale Infertility
AMELY, CDY1, DAZ, DBY, HSFY1, RBMY1, SRY, USP9Y
Clinical Cytogenomics Laboratory 81403

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