Clinical Genomics Laboratory
| Test Name | Panel | Disease Name | Gene | Laboratory | CPT Code |
|---|---|---|---|---|---|
| Constitutional Chromosomal Microarray Analysis | 22q11.2 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 duplications | Small deletions (200-200,000 bp), Small duplications (200-1,000,000 bp) | Clinical Cytogenomics Laboratory | 81479 | ||
| FusionPlex® Pan-Heme Panel | Leukemias, Lymphomas, Myelomas, Plasma cell neoplasms | ABL1, ABL2, ALK, BCL11B, BCL2, BCL6, BCR, BIRC3, CBFB, CCND1, CCND3, CDK6, CHD1, CHIC2, CIITA, CREBBP, CRLF2, CSF1R, DEK, DUSP22, EBF1, EIF4A1, EPOR, ERG, ETV6, FGFR1, GLIS2, IKZF2, IKZF3, JAK2, KAT6A, KLF2, KMT2A, MALT1, MECOM, MKL1, MLF1, MLLT10, MLLT4, MYC, MYH11, NF1, NFKB2, NOTCH1, NTRK3, NUP214, NUP98, P2RY8, PAG1, PAX5, PBX1, PDCD1LG2, PDGFRA, PDGFRB, PICALM, PML, PRDM16, PTK2B, RARA, RBM15, ROS1, RUNX1, RUNX1T1, SEMA6A, SETD2, STIL, TAL1, TCF3, TFG, TP63, TYK2, ZCCHC7 | Clinical Cytogenomics Laboratory | 81455 | |
| FusionPlex® Solid Tumor Panel | Solid tumor, Sarcoma, Lung cancer, Thyroid cancer, Head and neck cancers, Renal cell carcinomas, Mammary gland tumors, Prostate cancer, Brain tumor | ABL1, ABL2, AKT1, AKT2, AKT3, ALK, ARHGAP26, AXL, BCOR, BRAF, BRD3, BRD4, CAMTA1, CCNB3, CCND1, CDX1, CIC, CRLF2, CSF1, CSF1R, DDIT3, DNAJB1, EGFR, EPC1, EPOR, ERBB2, ERBB4, ERG, ESR1, ESRRA, ETV1, ETV4, ETV5, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR, FN1, FOS, FOXO1, FUS, GLI1, HMGA2, IL2RB, INSR, ITLN1, JAK1, JAK2, JAK3, JAZF1, KIT, MAML2, MAST1, MAST2, MEAF6, MET, MGEA5, MITF, MKL2, MN1, MSMB, MUSK, MYB, MYBL1, MYC, MYCN, NCOA2, NOTCH1, NOTCH2, NR4A3, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PAX3, PDGFB, PDGFRA, PDGFRB, PHF1, PIK3CA, PKN1, PLAG1, PPARG, PRKACA, PRKCA, PRKCB, PTK2B, RAF1, RARA, RELA, RET, ROS1, RSPO2, RSPO3, SS18, STAT6, SYK, TAF15, TCF12, TERT, TFE3, TFEB, TFG, THADA, TMPRSS2, TSLP, TYK2, USP6, VGLL2, YAP1, YWHAE | Clinical Cytogenomics Laboratory | 81455 | |
| Neoplasia Chromosomal Microarray Analysis | Chromosomal and sub-chromosomal deletions; Duplications or amplification; Loss of heterozygosity (LOH) | Whole Genome | Clinical Cytogenomics Laboratory | 81277 | |
| Y Chromosome Microdeletion Analysis | Male Infertility | AMELY, CDY1, DAZ, DBY, HSFY1, RBMY1, SRY, USP9Y | Clinical Cytogenomics Laboratory | 81403 |