GENETIC TESTING

Genetic sequencing:
Personalized medicine's next step

FGF23

CLINICAL SIGNIFICANCE

Tumoral calcinosis, hyperphosphatemic, familial Osteomalacia, tumor-induced

SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

GALNT3
CLINICAL SIGNIFICANCE

Tumoral calcinosis

SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

IPMK

CLINICAL SIGNIFICANCE

Hereditary neuroendocrine tumor of small intestine

SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

KIT

CLINICAL SIGNIFICANCE
  • Gastrointestinal stromal tumor, familial
  • Germ cell tumors
  • Leukemia, acute myeloid
SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

KRAS

CLINICAL SIGNIFICANCE
  • Breast cancer, somatic
  • Noonan syndrome
SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

MC1R

CLINICAL SIGNIFICANCE
  • Melanoma,
  • Cutaneous malignant, 5
SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

MSH3

CLINICAL SIGNIFICANCE
  • Endometrial carcinoma,
  • Somatic
SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

MUTYH
CLINICAL SIGNIFICANCE
  • Colorectal adenomatous polyposis
SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

PALB2
CLINICAL SIGNIFICANCE
  • Hereditary Breast Cancer
SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

RELATED TESTS

PRF1
CLINICAL SIGNIFICANCE
  • Hemophagocytic lymphohistiocytosis,
  • Familial,
  • 2 Lymphoma,
  • Non-Hodgkin
SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

PTCH2
CLINICAL SIGNIFICANCE
  • Basal cell carcinoma,
  • Somatic
SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

RAD51
CLINICAL SIGNIFICANCE

RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer

SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

Segregation analysis (variant confirmation in family members)
TEST DESCRIPTION

Family analysis (segregation analysis), in which are only determined the presence of the rare variants identified in the patient in additional family members.

SPECIMEN REQUIREMENTS

EDTA blood (min. 5 ml) or DNA (min. 1µg)

TURNAROUND TIME

Processing time: 2-4 weeks

RET
TEST DESCRIPTION

Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems

SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

1 RET Hotspot
TEST DESCRIPTION

Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems

SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

8 RET Hotspot (exons 5, 8, 10, 11 and 13-16)
TEST DESCRIPTION

Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems

SPECIMEN REQUIREMENTS

1-2 ml of EDTA blood or 1-2 µg genomic DNA is required for analysis

TURNAROUND TIME

Processing time: 2-4 weeks

Colorectal cancer
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 26 genes. All of these genes are sequenced simultaneously.

APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PMS2, POLD1, POLE, PTEN, RINT1, RNF43, RPS20, SCG5, SMAD4, STK11, TP53

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Colorectal cancer polyposis syndrome
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 14 genes. All of these genes are sequenced simultaneously.

APC, BMPR1A, CHEK2, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SCG5, SMAD4, STK11

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Colorectal cancer – hereditary nonpolyposis colorectal cancer (HNPCC/Lynch syndrome)
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 5 genes. All of these genes are sequenced simultaneously.

EPCAM, MLH1, MSH2, MSH6, PMS2

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Breast and Ovarian cancer (Germline Tumor Syndromes)
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 11 genes. All of these genes are sequenced simultaneously

ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, TP53

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Breast and Ovarian cancer – extended (Germline Tumor Syndromes)
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 40 genes. All of these genes are sequenced simultaneously.

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, HOXB13, MEN1, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RINT1, SDHB, SDHC, SDHD, SLX4, STK11, TP53, XRCC2

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Prostate cancer
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 11 genes. All of these genes are sequenced simultaneously.

BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Pheochromocytoma and paraganglioma
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 14 genes. All of these genes are sequenced simultaneously.

CDKN1B, MAX, MEN1, NF1, PRKAR1A, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SRGAP1, TMEM127, VHL

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Other familial tumor syndromes
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 53 genes. All of these genes are sequenced simultaneously.

AIP, AKT1, ALK, APC, ATR, BAP1, BLM, BRCA2, CDC73, CDH1, CDKN1C, CDKN2A, CYLD, DICER1, EPCAM, FH, HRAS, IL1B, IL1RN, KIT, LIG4, LZTR1, MET, MLH1, MSH2, MSH6, NBN, NF1, NF2, PIK3CA, PMS2, PTEN, RASAL1, RB1, RECQL4, RET, RHBDF2, SDHA, SDHB, SDHC, SDHD, SEC23B, SMARCA4, SMARCB1, SMARCE1, SPRED1, SUFU, TP53, TSC1, TSC2, VHL, WRN, YAP1

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Tumors of the central nervous system
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 18 genes. All of these genes are sequenced simultaneously.

AIP, APC, BRCA2, MLH1, MSH2, MSH6, NF1, NF2, PMS2, PTEN, SDHA, SDHB, SDHD, SMARCE1, SPRED1, SUFU, TP53, VHL

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Pancreatic cancer
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 17 genes. All of these genes are sequenced simultaneously.

APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PALLD, PMS2, PRSS1, SPINK1, STK11, TP53, VHL

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Renal cell carcinoma
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 28 genes. All of these genes are sequenced simultaneously.

BAP1, CCND1, CDC73, CHEK2, DIS3L2, EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, WT1

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Xeroderma pigmentosum
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 9 genes. All of these genes are sequenced simultaneously

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Melanoma
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 15 genes. All of these genes are sequenced simultaneously.

BAP1, BRCA2, CDK4, CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS2, POT1, PTEN, RB1, TP53

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Fanconi anemia

TEST DESCRIPTION

The panel for genetic tumor syndromes covers 21 genes. All of these genes are sequenced simultaneously

BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Gastric cancer
TEST DESCRIPTION

The panel for genetic tumor syndromes covers 10 genes. All of these genes are sequenced simultaneously.

BRCA2, CDH1, EPCAM, IL1B, IL1RN, KIT, MLH1, MSH2, MSH6, PMS2

SPECIMEN REQUIREMENTS

1-2 ml EDTA blood or 1-2 µg genomic DNA

TURNAROUND TIME

Turnaround time: 4-6 weeks

Somatic Tumor Panel for treatment decision support
TEST DESCRIPTION

Large panel approach: Full sequencing and analysis of 766 genes and fusions in 31 genes.
High average sequencing coverage to detect subclonal variants: 500-1,000x
Sensitivity: >99.9%; Specificity: >99.9%
Targeted RNA-based fusion transcript analysis possible

Gene list for DNA-based anaylsis

AAK1, ABCB1, ABCG2, ABL1, ABL2, ABRAXAS1, ACD, ACVR1, ADGRA2, ADRB1, ADRB2, AIP, AIRE, AJUBA, AKT1, AKT2, AKT3, ALK, ALOX12B, AMER1, ANKRD26, APC, APLNR, APOBEC3A, APOBEC3B, AR, ARAF, ARHGAP35, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATP1A1, ATR, ATRX, AURKA, AURKB, AURKC, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BAX, BCHE, BCL10, BCL11A, BCL11B, BCL2, BCL3, BCL6, BCL9, BCL9L, BCOR, BCORL1, BCR, BIRC2, BIRC3, BIRC5, BLM, BMI1, BMPR1A, BRAF, BRCA1, BRCA2, BRD3, BRD4, BRD7, BRIP1, BTK, BUB1B, CALR, CAMK2G, CARD11, CASP8, CBFB, CBL, CBLB, CBLC, CCDC6, CCND1, CCND2, CCND3, CCNE1, CD274, CD79A, CD79B, CD82, CDC73, CDH1, CDH11, CDH2, CDH5, CDK1, CDK12, CDK4, CDK5, CDK6, CDK8, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CEP57, CFTR, CHD1, CHD2, CHD4, CHEK1, CHEK2, CIC, CIITA, CKS1B, CNKSR1, COL1A1, COMT, COQ2, CREB1, CREBBP, CRKL, CRLF2, CRTC1, CRTC2, CSF1R, CSF3R, CSMD1, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CTRC, CUX1, CXCR4, CYLD, CYP1A2, CYP2A7, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DAXX, DCC, DDB2, DDR1, DDR2, DDX11, DDX3X, DDX41, DEK, DHFR, DICER1, DIS3L2, DNMT1, DNMT3A, DOT1L, DPYD, E2F3, EBP, EED, EFL1, EGFR, EGLN1, EGLN2, EIF1AX, ELAC2, ELF3, EME1, EML4, EMSY, EP300, EPAS1, EPCAM, EPHA2, EPHA3, EPHA4, EPHB4, EPHB6, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ESR2, ETNK1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EXO1, EXT1, EXT2, EZH1, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FAT1, FBXO11, FBXW7, FEN1, FES, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF9, FGFBP1, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXA2, FOXE1, FOXL2, FOXO1, FOXO3, FOXP1, FOXQ1, FRK, FRS2, FUBP1, FUS, FYN, G6PD, GALNT12, GATA1, GATA2, GATA3, GATA4, GATA6, GGT1, GLI1, GLI2, GLI3, GNA11, GNA13, GNAQ, GNAS, GNB3, GPC3, GPER1, GREM1, GRIN2A, GRM3, GSK3A, GSK3B, GSTP1, H3-3A, H3-3B, H3C2, HABP2, HCK, HDAC1, HDAC2, HDAC6, HGF, HIF1A, HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HMGA2, HMGCR, HMGN1, HNF1A, HNF1B, HOXB13, HRAS, HSD3B1, HSP90AA1, HSP90AB1, HTR2A, ID3, IDH1, IDH2, IDO1, IFNGR1, IFNGR2, IGF1R, IGF2, IGF2R, IKBKB, IKBKE, IKZF1, IKZF3, IL1B, IL1RN, ING4, INPP4A, INPP4B, INPPL1, INSR, IRF1, IRF2, IRS1, IRS2, IRS4, ITPA, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KIAA1549, KIF1B, KIT, KLF2, KLF4, KLHL6, KLLN, KMT2A, KMT2B, KMT2C, KMT2D, KNSTRN, KRAS, KSR1, LATS1, LATS2, LCK, LIG4, LIMK2, LRP1B, LRRK2, LTK, LYN, LZTR1, MAD2L2, MAF, MAGI1, MAGI2, MAML1, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K5, MAP2K6, MAP2K7, MAP3K1, MAP3K13, MAP3K14, MAP3K3, MAP3K4, MAP3K6, MAP3K8, MAPK1, MAPK11, MAPK12, MAPK14, MAPK3, MAX, MBD1, MC1R, MCL1, MDC1, MDH2, MDM2, MDM4, MECOM, MED12, MEF2B, MEN1, MERTK, MET, MGA, MGMT, MITF, MLH1, MLH3, MLLT10, MLLT3, MN1, MPL, MRE11, MS4A1, MSH2, MSH3, MSH4, MSH5, MSH6, MSR1, MST1R, MTAP, MTHFR, MTOR, MT-RNR1, MTRR, MUC1, MUTYH, MXI1, MYB, MYC, MYCL, MYCN, MYD88, MYH11, MYH9, NAT2, NBN, NCOA1, NCOA3, NCOR1, NF1, NF2, NFE2L2, NFKB1, NFKB2, NFKBIA, NFKBIE, NIN, NKX2-1, NLRC5, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NQO1, NR1I3, NRAS, NRG1, NRG2, NSD1, NSD2, NSD3, NT5C2, NT5E, NTHL1, NTRK1, NTRK2, NTRK3, NUMA1, NUP98, NUTM1, OPRM1, PAK1, PAK3, PAK4, PAK5, PALB2, PALLD, PARP1, PARP2, PARP4, PAX3, PAX5, PAX7, PBK, PBRM1, PBX1, PDCD1, PDCD1LG2, PDGFA, PDGFB, PDGFC, PDGFD, PDGFRA, PDGFRB, PDIA3, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIGA, PIK3C2A, PIK3C2B, PIK3C2G, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PKHD1, PLCG1, PLCG2, PLK1, PML, PMS1, PMS2, POLD1, POLE, POLH, POLQ, POT1, PPM1D, PPP2R1A, PPP2R2A, PRDM1, PREX2, PRKAR1A, PRKCA, PRKCI, PRKD1, PRKDC, PRKN, PRMT5, PRSS1, PSMB1, PSMB10, PSMB2, PSMB5, PSMB8, PSMB9, PSMC3IP, PSME1, PSME2, PSME3, PSPH, PTCH1, PTCH2, PTEN, PTGS2, PTK2, PTK6, PTK7, PTPN11, PTPN12, PTPRC, PTPRD, PTPRS, PTPRT, RABL3, RAC1, RAC2, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54B, RAD54L, RAF1, RALGDS, RARA, RASA1, RASAL1, RB1, RBM10, RECQL4, RET, RFC2, RFWD3, RFX5, RFXANK, RFXAP, RHBDF2, RHEB, RHOA, RICTOR, RINT1, RIPK1, RIT1, RNASEL, RNF43, ROS1, RPS20, RPS6KB1, RPS6KB2, RPTOR, RSF1, RUNX1, RYR1, SAMHD1, SAV1, SBDS, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SERPINB9, SETBP1, SETD2, SETDB1, SF3B1, SGK1, SH2B1, SH2B3, SHH, SIK2, SIN3A, SKP2, SLC19A1, SLC26A3, SLCO1B1, SLIT2, SLX4, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMARCE1, SMC1A, SMC3, SMO, SOCS1, SOX11, SOX2, SOX9, SPEN, SPINK1, SPOP, SPRED1, SPTA1, SRC, SRD5A2, SRGAP1, SRSF2, SSTR1, SSTR2, SSX1, STAG1, STAG2, STAT1, STAT3, STAT5A, STAT5B, STK11, SUFU, SUZ12, SYK, TAF1, TAF15, TAP1, TAP2, TAPBP, TBK1, TBL1XR1, TBX3, TCF3, TCF4, TCF7L2, TCL1A, TEK, TENT5C, TERC, TERF2IP, TERT, TET1, TET2, TFE3, TGFB1, TGFBR2, TLR4, TLX1, TMEM127, TMPRSS2, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF14, TNFRSF8, TNFSF11, TNK2, TOP1, TOP2A, TP53, TP53BP1, TP63, TPMT, TPX2, TRAF2, TRAF3, TRAF5, TRAF6, TRAF7, TRRAP, TSC1, TSC2, TSHR, TTK, TUBB, TYMS, U2AF1, UBE2T, UBR5, UGT1A1, UGT2B15, UGT2B7, UIMC1, UNG, USP34, USP9X, VEGFA, VEGFB, VHL, VKORC1, WRN, WT1, XIAP, XPA, XPC, XPO1, XRCC1, XRCC2, XRCC3, XRCC5, XRCC6, YAP1, YES1, ZFHX3, ZNF217, ZNF703, ZNRF3, ZRSR2

DNA-based detection of selected fusions in these genes

ALK, BCL2, BCR, BRAF, BRD4, EGFR, ERG, ETV4, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FUS, MET, MYB, MYC, NOTCH2, NTRK1, PAX3, PDGFB, RAF1, RARA, RET, ROS1, SSX1, SUZ12, TAF15, TCF3, TFE3, TMPRSS2

RNA-based fusion transcript analysis option Gene list for de-novo fusion detection:

ABL1, AFAP1, AGK, AKAP12, AKAP4, AKAP9, AKT2, AKT3, ALK, ASPSCR1, BAG4, BCL2, BCORL1, BCR, BICC1, BRAF, BRD3, BRD4, CCAR2, CCDC6, CD74, CIC, CLTC, CNTRL, COL1A1, CRTC1, DDIT3, EGFR, EML4, ERBB2, ERBB4, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZR, FGFR1, FGFR2, FGFR3, FLI1, FN1, FUS, GOPC, JAZF1, KIAA1549, KIF5B, MAGI3, MAML1, MET, MGA, MYB, MYC, NAB2, NCOA4, NFIB, NOTCH2, NPM1, NRG1, NSD3, NTRK1, NTRK2, NTRK3, NUTM1, PAX3, PAX7, PAX8, PDGFB, PDGFRB, PIK3CA, PLAG1, PML, POU5F1, PRKAR1A, QKI, RAF1, RARA, RET, ROS1, SDC4, SHTN1, SLC34A2, SND1, SQSTM1, SS18, SSX1, STAT6, STRN, SUZ12, TACC1, TACC3, TAF15, TFE3, TFG, THADA, TMPRSS2, TPM3, TPR, TRIM24, TRIM33, WT1, YAP1, ZMYM2, ZNF703

Gene list for selected break points in these fusion genes:

TRIM24-BRAF, KIAA1549-BRAF, SND1-BRAF, EML4-ALK, CLTC-ALK, NPM1-ALK, TPM3-ALK, KIF5B-ALK, ETV6-NTRK3, EWSR1-ERG, EWSR1-FLI1, FGFR3-TACC3, FGFR2-BICC1, FGFR2-TACC3, FGFR1-TACC1, TMPRSS2-ERG, TPM3-NTRK1,TPR-NTRK1, TRIM24-NTRK2, AFAP1-NTRK2, QKI-NTRK2, ETV6-NTRK2, KIF5B-RET, CCDC6-RET, NCOA4-RET, PRKAR1A-RET, TRIM33-RET, CD74-ROS1, EZR-ROS1, SLC34A2-ROS1, TPM3-ROS1, SDC4-ROS1, BRD4-NUTM1, BRD3-NUTM1, MAG-NUTM1, NSD3-NUTM1, NAB2-STAT6

List for specific transcript variants:

EGFR del ex25-26, EGFR del ex25-27, EGFR VII, EGFR VIII, MET ex14 skipping

SPECIMEN REQUIREMENTS

Normal tissue:
1-2 ml EDTA blood or Genomic DNA (1-2 µg)

Tumor tissue: (tumor content at least 20%)
FFPE tumor block (min. tissue size 5x5x5 mm) or
FFPE tumor tissue slides (min. 10 slices 4-10 µm, tissue size 5×5 mm) or
Genomic DNA (> 200 ng) or
Fresh frozen tumor tissue or 3x 10 ml cfDNA tubes for liquid biopsy

Tumor diseases (Gene set, 42 genes)
GENES

APC, ATM, BAP1, BMPR1A, BRCA1, BRCA2, CDC73, CDH1, CDKN2A, CHEK2, EPCAM, FH, FLCN, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TMEM127, TP53, TSC1, TSC2, VHL

Cardiovascular diseases(Gene set, 68 genes)
GENES

ACTA2, ACTC1, ACTN2, ACVRL1, BAG3, BMPR2, CACNA1C, CALM1, CALM2, CAV1, COL3A1, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, ENG, FBN1, FHL1, FLNC, GJA5, GLA, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LDB3, LMNA, LOX, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYPN, NKX2-5, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN5A, SMAD3, SMAD9, TBX4, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL

Thrombosis and coagulation disorders (Gene set, 17 genes)
GENES

F10, F11, F13A1, F2, F5, F7, F8 (intronic inversions not covered), F9, HRG, PROC, PROS1, SERPINC1, SERPIND1, SERPINE1, SERPINF2, THBD, VWF

Iron and copper storage disorders (Gene set, 6 genes)
GENES

ATP7B, HAMP, HFE, HJV, SLC40A1, TFR2

Hypercholesterolemia (Gene set, 4 genes)
GENES

APOB, LDLR, LDLRAP1, PCSK9

Glaucoma (Gene set, 3 genes)
GENES

CYP1B1, MYOC, OPTN

Malignant hyperthermia / anaesthesia intolerance (Gene set, 2 genes)
GENES

CACNA1S, RYR1

Pharmacogenetics (Gene set, 20 genes)
GENES

CACNA1S, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, HLA-A, HLA-B, IFNL3, MT-RNR1, NUDT15, POR, RYR1, SLCO1B1, TPMT, UGT1A1, VKORC1

Analysis for microsatellite instability (MSI) via PCR

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

BAT25, BAT26, NR21, NR22, NR27

SPECIMEN REQUIREMENTS

Sample requirements for all analyses (minimum 20% tumor content):

  • DNA (> 200 ng) or
  • FFPE tumor block or
  • Tissue slides (minimum 10 slides)
  • If possible: H&E-stained slides with tumor area distinctly labeled. Please report the tumor content (of the labeled tumor area)

MSI only: Normal tissue in addition to tumor tissue:

  • 1-2 ml EDTA blood or
  • 1-2 µg DNA or
  • FFPE block with normal tissue of the patient
  • If possible: H&E-stained slides with tumor and (if a blood sample is not available) normal tissue area distinctly labeled. Please report the tumor content (of the labeled tumor area)
TURNAROUND TIME

2-3 weeks from sample receipt

BRCA1 and BRCA2 analysis only in normal tissue

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

SPECIMEN REQUIREMENTS

Normal tissue required for germline BRCA1/BRCA2 analysis:

  • DNA (> 200 ng) or
  • 1-2 ml EDTA blood
TURNAROUND TIME

2-3 weeks from sample receipt

BRCA1 and BRCA2 analysis only in tumor tissue

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides)/ If possible: H&E- stained slides with tumor area distinctly labeled. Please report the tumor content (of the labeled tumor area) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

BRCA1 and BRCA2 analysis in tumor and normal tissue

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

SPECIMEN REQUIREMENTS

Normal tissue in addition to tumor tissue:

  • 1-2 ml EDTA blood or
  • DNA (> 200 ng)
  • FFPE block with normal tissue (Formalin-Fixed, Paraffin- Embedded) or
  • FFPE tumor block with normal tissue area (incl. H&E- stained slide with distinctly labeled tumor and normal tissue area)
TURNAROUND TIME

2-3 weeks from sample receipt

Breast and Ovarian cancer

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

BRCA1, BRCA2, ERBB2, PIK3CA, TP53

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

Cholangiocellular carcinoma

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

IDH1, IDH2, TP53

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA

MSI only: Normal tissue in addition to tumor tissue:

  • 1-2 ml EDTA blood or
  • 1-2 µg DNA or
  • FFPE block with normal tissue of the patient
  • If possible: H&E-stained slides with tumor and (if a blood sample is not available) normal tissue area distinctly labeled. Please report the tumor content (of the labeled tumor area)
TURNAROUND TIME

2-3 weeks from sample receipt

Colorectal cancer / Gastric cancer

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

BRAF, EPCAM, ERBB2, KRAS, MLH1, MSH2, MSH6, NRAS, PIK3CA, PMS2, SMAD4, TP53

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

Glioma

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

BRAF, H3F3A, HIST1H3B, IDH1, IDH2, PIK3CA, TERT promoter, TP53

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

Lung cancer

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

ALK translocation, BRAF, DDR2, EGFR, ERBB2, KRAS, MAP2K1, MET (incl. exon 14 skipping), NRAS, PIK3CA, RET translocation, ROS1 translocation, TP53

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

Gastrointestinal stromal tumors

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

BRAF, KIT, PDGFRA, TP53

SPECIMEN REQUIREMENTS

Sample requirements for all analyses (minimum 20% tumor content):

  • DNA (> 200 ng) or
  • FFPE tumor block or
  • Tissue slides (minimum 10 slides)
  • If possible: H&E-stained slides with tumor area distinctly labeled. Please report the tumor content (of the labeled tumor area)

MSI only: Normal tissue in addition to tumor tissue:

  • 1-2 ml EDTA blood or
  • 1-2 µg DNA or
  • FFPE block with normal tissue of the patient
  • If possible: H&E-stained slides with tumor and (if a blood sample is not available) normal tissue area distinctly labeled. Please report the tumor content (of the labeled tumor area)
TURNAROUND TIME

2-3 weeks from sample receipt

Melanoma

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

BRAF, CTNNB1, GNA11, GNAQ, KIT, MAP2K1, NRAS, TP53

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

Myelodysplastic syndromes (MDS)

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

JAK2

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

Pancreatic cancer

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

KRAS, SMAD4, BRCA1, BRCA2, CDKN2A, TP53

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

Thyroid cancer

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Analysis of single nucleotide variants (SNVs), translocations, and microsatellite instability (MSI) status / High average sequencing coverage: 1000x No underrepresented regions (0%) /Sensitivity: > 99.9%; Specificity: > 99.9%

BRAF, HRAS, KRAS, NRAS, TP53

SPECIMEN REQUIREMENTS

Tumor tissue (minimal tumor content 20%):

  • FFPE (Formalin-Fixed, Paraffin-Embedded)
  • Tissue slides (minimum 10 slides) or
  • 1-2 µg DNA
TURNAROUND TIME

2-3 weeks from sample receipt

Single Exome Diagnostics
EXOME DIAGNOSTICS OF THE PATIENT, INCLUDING MEDICAL REPORT

The patient’s whole exome is sequenced.

The exome comprises all protein-coding regions (exons) of the about 23,000 genes in the human genome, Exome Xtra achieves the maximum diagnostic yield to solve patient cases. It combines the advantages of whole-exome sequencing (WES) and whole- genome sequencing (WGS).

Duo Exome Diagnostics
TEST DESCRIPTION

Duo exome diagnostics allows the comparative genetic analysis of two family members.

Comparative exome diagnostics between patient and a family member, incl. medical report.

SPECIMEN REQUIREMENTS

Standard sample requirements are 1-2 ml EDTA blood

TURNAROUND TIME

2-3 weeks from sample receipt

Trio Exome Diagnostics
TEST DESCRIPTION

Classical trio exome diagnostics is applied to diagnose an affected patient with unaffected parents.

Comparative exome diagnostics between patient and parents, incl. medical report.

SPECIMEN REQUIREMENTS

Standard sample requirements are 1-2 ml EDTA blood

TURNAROUND TIME

2-3 weeks from sample receipt

Clinical Trio Exome Diagnostics
TEST DESCRIPTION

The clinical trio exome comprises the same advantages as our trio exome diagnostics and thus includes full exome and mtDNA sequencing of both index patient and parents.

Comparative exome diagnostics between patient and parents focused on genes associated with a clinical phenotype, according to current knowledge, incl. medical report.

SPECIMEN REQUIREMENTS

Standard sample requirements are 1-2 ml EDTA blood

TURNAROUND TIME

2-3 weeks from sample receipt

ACMG Genes

ACMG genes diagnostics for adults (59 genes)/ for minors (52 genes).

ACTA2, ACTC1, APC, APOB, ATP7B, BMPR1A, BRCA1*, BRCA2*, CACNA1S, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MEN1, MLH1*, MSH2*, MSH6*, MUTYH*, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PCSK9, PKP2, PMS2*, PRKAG2, PTEN, RB1, RET, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TP53, TPM1, TSC1, TSC2, VHL, WT1

According to German legislation, predictive tests for minors may not be performed for diseases which have an onset in adulthood. Therefore, the genes BRCA1, BRCA2, MLH1, MSH2, MSH6, MUTYH and PMS2 will not be analysed for minors, unless the phenotypic spectrum is within the scope of the primary medical indication of the patient.

Pharmacogenetics

Pharmacogenetics - (20 genes).

CACNA1S, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, HLA-A, HLA-B, IFNL3, MT-RNR1, NUDT15, POR, RYR1, SLCO1B1, TPMT, UGT1A1, VKORC1