Secvențiere genetică:
Următorul pas în personalizarea tratamentului

METHODOLOGY

• Sanger Sequencing

• Analysis of Deletions and Duplications (MLPA),
• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

• Sanger Sequencing

• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

• Sanger Sequencing

• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

• Sanger Sequencing

• Analysis of Deletions and Duplications (MLPA),
• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Gastrointestinal stromal tumors (Molecular Pathology)

METHODOLOGY

• Sanger Sequencing

• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Colorectal cancer, Gastric cancer, Pancreatic cancer, Somatic Tumor Panel for treatment decision support, Colorectal cancer/gastric cancer (Molecular Pathology), Lung cancer (Molecular Pathology), Pancreatic cancer (Molecular Pathology), Cholangiocellular carcinoma (Molecular Pathology), Tumor Immuno-Oncology Analysis (TMB and MSI), Whole Exome Analysis

METHODOLOGY

• Sanger Sequencing

• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Melanoma (Germline Tumor Syndromes)

METHODOLOGY

• Sanger Sequencing

• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Colorectal cancer, Colorectal cancer polyposis syndrome, Colorectal cancer - hereditary nonpolyposis colorectal cancer, Somatic Tumor Panel for treatment decision support, Colorectal cancer/gastric cancer (Molecular Pathology), Whole Exome Analysis

METHODOLOGY

• Sanger Sequencing

• Analysis of Deletions and Duplications (MLPA),
• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Colorectal cancer, Colorectal cancer polyposis syndrome, Colorectal cancer - hereditary nonpolyposis colorectal cancer, Prostate cancer, Tumor Immuno-Oncology Analysis (TMB and MSI), Somatic Tumor Panel for treatment decision support, Colorectal cancer/gastric cancer (Molecular Pathology), Whole Exome Analysis, Breast and ovarian cancer, Breast and ovarian cancer - extended, Breast - and Ovarial carcinoma (Molecular Pathology), Lung cancer (Molecular Pathology)

METHODOLOGY

• Sanger Sequencing

• Analysis of Deletions and Duplications (MLPA),
• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

Colorectal cancer, Pancreatic cancer, Breast and ovarian cancer, Breast and ovarian cancer - extended, Prostate cancer, Renal cell carcinoma, Somatic Tumor Panel for treatment decision support, Colorectal cancer/gastric cancer (Molecular Pathology), Breast - and Ovarial carcinoma (Molecular Pathology), Pancreatic cancer (Molecular Pathology), Whole Exome Analysis, Tumor Immuno-Oncology Analysis (TMB and MSI)

METHODOLOGY

• Sanger Sequencing

• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Gastrointestinal stromal tumors (Molecular Pathology),

METHODOLOGY

• Sanger Sequencing

• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

• Sanger Sequencing

• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene

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

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

RELATED TESTS

Breast and ovarian cancer, Breast and ovarian cancer - extended, Pancreatic cancer, Tumors of the central nervous system, Somatic Tumor Panel for treatment decision support, Breast - and Ovarial carcinoma (Molecular Pathology), Pancreatic cancer (Molecular Pathology), Lung cancer (Molecular Pathology), Whole Exome Analysis

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Prevention Panel (tumor diseases, cardiovascular diseases, thrombosis and coagulation disorders, iron-and copper storage diseases, hypercholesteremia, glaucoma, pharmacogenetics and malignant hyperthermia)

METHODOLOGY

• Sanger Sequencing;

• Analysis of Deletions and Duplications(MLPA),
• Fragment Length Analysis/96-capillary 3730xl DNA Analyzer from Applied Biosystems,
• Sequencing of all coding exons of the gene
• Deletion and duplication analysis

CLINICAL SIGNIFICANCE

• Hirschsprung disease, multiple endocrine neoplasia type 2 (MEN 2),

• Familial medullary thyroid carcinoma (FMTC)

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

PALB2, MUTYH, RAD51C, Tumor Immuno-Oncology Analysis (TMB and MSI), Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

BRCA1 and BRCA2 analysis in tumor tissue, BRCA1 and BRCA2 analysis in normal tissue, BRCA1 and BRCA2 analysis in tumor and normal tissue, Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

PALB2, RAD51, Tumor Immuno-Oncology Analysis (TMB and MSI), Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

KIT, Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

Parallel evaluation of ACMG class 4/5 variants in phenotype related genes in complete panel

TEST DESCRIPTION

For gene sets with up to 9 genes

SPECIMEN REQUIREMENTS

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

TURNAROUND TIME

Turnaround time: 4-6 weeks

METHODOLOGY

Parallel evaluation of ACMG class 4/5 variants in phenotype related genes in complete panel

TEST DESCRIPTION

For gene sets with up to 29 genes

SPECIMEN REQUIREMENTS

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

TURNAROUND TIME

Turnaround time: 4-6 weeks

METHODOLOGY

Parallel evaluation of ACMG class 4/5 variants in phenotype related genes in complete panel

TEST DESCRIPTION

For gene sets with 30 genes or more

SPECIMEN REQUIREMENTS

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

TURNAROUND TIME

Turnaround time: 4-6 weeks

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

MUTYH, Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

KRAS, MUTYH, Somatic Tumor Panel for treatment decision support, Gastrointestinal stromal tumors (Molecular Pathology)

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

The panel for genetic tumor syndromes covers 6 genes. All of these genes are sequenced simultaneously.

AKT1, PIK3CA, PTEN, SDHB, SDHD, SEC23B

SPECIMEN REQUIREMENTS

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

TURNAROUND TIME

Turnaround time: 4-6 weeks

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

BRCA1 and BRCA2 analysis in tumor tissue, BRCA1 and BRCA2 analysis in normal tissue, BRCA1 and BRCA2 analysis in tumor and normal tissue, Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

KRAS, PALB2, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

KIT, BRCA1 and BRCA2 analysis in tumor tissue, Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

PALB2, MUTYH, Tumor Immuno-Oncology Analysis (TMB and MSI), Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

BRCA1 and BRCA2 analysis in tumor tissue, BRCA1 and BRCA2 analysis in normal tissue, BRCA1 and BRCA2 analysis in tumor and normal tissue, Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

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

RELATED TESTS

Somatic Tumor Panel for treatment decision support, Whole Exome Analysis

METHODOLOGY

High throughput sequencing is performed on Illumina platforms

TEST DESCRIPTION

Large panel approach: Full sequencing and analysis of 742 genes and translocations in 31 genes.

High average sequencing coverage to detect subclonal variants: 500-1,000x Sensitivity: > 98.5% ^*; Specificity: > 99.9%

ABL1, ABL2, ABRAXAS1, ACD, ACVR1, ADGRA2, AIP, AIRE, AJUBA, AKT1, AKT2, AKT3, ALK, AMER1, ANKRD26, APC, APLNR, AR, ARAF, ARHGAP35, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATG2B, ATM, ATP1A1, ATR, ATRX, AURKA, AURKB, AURKC, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BCL10, BCL11A, BCL11B, BCL2, BCL3, BCL6, BCL9, BCOR, BCORL1, BCR, BIRC2, BIRC3, BIRC5, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD3, BRD4, BRIP1, BTK, BTNL2, BUB1B, CALR, CAMK2G, CANX, CARD11, CASP8, CBFB, CBL, CBLB, CBLC, CCDC6, CCND1, CCND2, CCND3, CCNE1, CD274, CD38, CD52, CD58, CD74, CD79A, CD79B, CD82, CDC73, CDH1, CDH11, CDH2, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CEBPA, CEP57, CHD1, CHD2, CHD4, CHEK1, CHEK2, CIC, CIITA, CKS1B, CNOT3, COL1A1, COMMD1, CREB1, CREBBP, CRKL, CRTC1, CRTC2, CSF1R, CSF2, CSF3R, CSMD1, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CTSB, CTSL, CTSS, CUL4B, CUX1, CXCR4, CYLD, CYP2A7, DAXX, DCC, DDB2, DDR1, DDR2, DDX11, DDX3X, DDX41, DEK, DHFR, DICER1, DIS3, DIS3L2, DKC1, DNMT1, DNMT3A, DOT1L, DPYD, E2F3, EBP, EGFR, EGLN1, EGR2, EGR3, ELAC2, ELANE, ELF3, 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, FBXW7, FES, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGFBP1, FGFR1, FGFR2, FGFR3, FGFR4, FH, FKBP1A, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXA2, FOXE1, FOXL2, FOXO1, FOXO3, FOXP1, FOXQ1, FRK, FRS2, FUBP1, FUS, FYN, G6PD, GABRA6, GALNT12, GATA1, GATA2, GATA3, GATA4, GATA6, GLDN, GLI1, GLI2, GNA11, GNA13, GNAQ, GNAS, GPC3, GPER1, GREM1, GRIN2A, GRM3, GSK3A, H3F3A, HCK, HGF, HIF1A, HIST1H3B, HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLADQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLF, HMGA2, HMGN1, HMOX2, HNF1A, HNF1B, HOXB13, HOXD8, HRAS, HSD3B1, HSP90AA1, HSP90AB1, HSPA4, ID3, IDH1, IDH2, IFI30, IFNGR1, IFNGR2, IGF1R, IGF2, IGF2R, IKBKB, IKBKE, IKZF1, IKZF3, IL1B, IL1RN, IL2, IL21R, IL6, IL6ST, IL7R, IL8, ING4, INPP4B, INPPL1, IRF1, IRS2, ITK, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KIAA1549, KIT, KLF2, KLF4, KLHDC8B, KLHL6, KMT2A, KMT2B, KMT2C, KMT2D, KRAS, LATS1, LATS2, LCK, LGMN, LIG4, LIMK2, LMO1, LRP1B, LRRK2, LTK, LYN, LZTR1, MAD2L2, MAFB, MAGEA1, MAGI1, MAGI2, MAML1, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K5, MAP2K6, MAP2K7, MAP3K1, MAP3K14, MAP3K3, MAP3K4, MAP3K6, MAPK1, MAPK11, MAPK12, MAPK14, MAPK3, MAPK8IP1, MAX, MBD1, MC1R, MCL1, MDC1, MDM2, MDM4, MECOM, MED12, MEF2B, MEN1, MET, MGA, MGMT, MITF, MLH1, MLH3, MLLT10, MLLT3, MN1, MPL, MRE11, MS4A1, MSH2, MSH3, MSH4, MSH5, MSH6, MSR1, MST1R, MTHFR, MTOR, MTRR, MUC1, MUTYH, MXI1, MYB, MYC, MYCL, MYCN, MYD88, MYH11, MYH9, NBN, NCOA1, NCOA3, NCOR1, NF1, NF2, NFE2L2, NFKB1, NFKB2, NFKBIA, NFKBIE, NFYA, NFYB, NFYC, NIN, NLRC5, NOP10, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NQO1, NR1I3, NRAS, NRG2, NSD1, NSD2, NT5C2, NT5E, NTHL1, NTRK1, NTRK2, NTRK3, NUMA1, NUP98, PAK1, PAK3, PALB2, PALLD, PARP1, PARP2, PARP4, PAX3, PAX5, PAX7, PBK, PBRM1, PBX1, PDCD1, PDCD1LG2, PDF, PDGFA, PDGFB, PDGFC, PDGFD, PDGFRA, PDGFRB, PDIA3, PDK1, PGR, PHF6, PHOX2B, PIAS4, PIGA, PIK3C2A, PIK3C2B, PIK3C2G, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PKHD1, PLCG1, PLCG2, PML, PMS1, PMS2, POLD1, POLE, POLH, POLQ, POT1, PPM1D, PPP2R2A, PRDM1, PRDM16, PREX2, PRF1, PRKAR1A, PRKCA, PRKD1, PRKDC, PRKN, PROM2, PRSS1, PRX, PSIP1, PSMB1, PSMB10, PSMB2, PSMB5, PSMB8, PSMB9, PSMC3IP, PSME1, PSME2, PSME3, PSPH, PTCH1, PTCH2, PTEN, PTGS2, PTK2, PTK7, PTPN11, PTPN12, PTPRC, PTPRD, PTPRT, RAC1, RAC2, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54B, RAD54L, RAF1, RALGDS, RARA, RARB, RARG, RASA1, RASAL1, RB1, RBM10, RECQL4, REL, RET, RFC2, RFX5, RFXANK, RFXAP, RHBDF2, RHEB, RHOA, RICTOR, RINT1, RIPK1, RIT1, RNASEL, RNF2, RNF43, ROS1, RPL22, RPS20, RPS6KB1, RPTOR, RSF1, RUNX1, RYR1, SACS, SAMHD1, SAV1, SBDS, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SEM1, SEMA4A, SETBP1, SETD2, SETDB1, SF3B1, SGK1, SH2B1, SH2B3, SH2D1A, SHH, SIK2, SIN3A, SIRT1, SKP2, SLC26A3, SLIT2, SLX4, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMO, SOCS1, SOX11, SOX2, SOX9, SPEN, SPINK1, SPOP, SPRED1, SPTA1, SRC, SRD5A2, SRGAP1, SRP72, SRSF2, SSTR1, SSTR2, SSTR3, SSTR5, SSX1, STAG1, STAG2, STAT1, STAT3, STAT5A, STAT5B, STK11, SUFU, SUZ12, SYK, TAF1, TAF15, TAP1, TAP2, TAPBP, TBK1, TBL1XR1, TBX3, TCF3, TCF4, TCL1A, TEK, TENT5C, TERC, TERF2IP, TERT, TET1, TET2, TFE3, TGFB1, TGFBR2, TLR4, TLX1, TMEM127, TNF, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF14, TNFRSF1A, TNFRSF1B, TNFRSF25, TNFRSF8, TNFSF11, TNK2, TOP1, TOP2A, TP53, TP53BP1, TP63, TPX2, TRAF2, TRAF3, TRAF5, TRAF6, TRAF7, TRRAP, TSC1, TSC2, TSHR, TTK, TUBA4A, TUBB, TYMS, U2AF1, UBE2T, UBR5, UGT2B15, UGT2B7, UIMC1, UNG, USP34, USP9X, VEGFA, VEGFB, VHL, VKORC1, WAS, WASF3, WISP3, WRN, WT1, XIAP, XPA, XPC, XPO1, XRCC1, XRCC2, XRCC3, XRCC5, XRCC6, YAP1, YES1, ZFHX3, ZHX3, ZNF217, ZNRF3, ZRSR2

Additional detection of selected translocations 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

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

TURNAROUND TIME

Turnaround time: 2-3 weeks after sample receipt

RELATED TESTS

Whole Exome Analysis

^* Based on high quality sample with 60% tumor content for detection of a heterozygous variant

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

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

GENES

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

GENES

ATP7B, HAMP, HFE, HJV, SLC40A1, TFR2

GENES

APOB, LDLR, LDLRAP1, PCSK9

GENES

CYP1B1, MYOC, OPTN

GENES

CACNA1S, RYR1

GENES

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

METHODOLOGY

With approximately 20,000 intronic and intergenic variants,
Exome Xtra contains all genomic regions described as disease-related in HGMD and ClinVar.

Average diagnostic coverage ~110x
Total GB sequenced – 15
SNV/CNV combinations

TEST DESCRIPTION

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).

SPECIMEN REQUIREMENTS

Standard sample requirements are 1-2 ml EDTA blood

TURNAROUND TIME

2-3 weeks from sample receipt

ACMG GENES

In addition to the investigation of variants associated with the patient ‘s phenotype, both the index patient and the parents may request an additional screening for relevant pathogenic variants within genes listed by the American College of Medical Genetics and Genomics according to current guidelines (ACMG SF V2.0; Kalia et al., 2017, PMID: 27854360).
This additional screening of ACMG genes allows the detection of relevant pathogenic variants outside the phenotype in a certain set of genes with a therapeutic relevance.
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 analyzed for minors, unless the phenotypic spectrum is within the scope of the primary medical indication of the patient.

METHODOLOGY

With approximately 20,000 intronic and intergenic variants,
Exome Xtra contains all genomic regions described as disease-related in HGMD and ClinVar.

Average diagnostic coverage ~110x
Total GB sequenced – 15
SNV/CNV combinations

TEST DESCRIPTION

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).

SPECIMEN REQUIREMENTS

Standard sample requirements are 1-2 ml EDTA blood

TURNAROUND TIME

2-3 weeks from sample receipt

ACMG GENES

In addition to the investigation of variants associated with the patient ‘s phenotype, both the index patient and the parents may request an additional screening for relevant pathogenic variants within genes listed by the American College of Medical Genetics and Genomics according to current guidelines (ACMG SF V2.0; Kalia et al., 2017, PMID: 27854360).
This additional screening of ACMG genes allows the detection of relevant pathogenic variants outside the phenotype in a certain set of genes with a therapeutic relevance.
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 analyzed for minors, unless the phenotypic spectrum is within the scope of the primary medical indication of the patient.

METHODOLOGY

With approximately 20,000 intronic and intergenic variants,
Exome Xtra contains all genomic regions described as disease-related in HGMD and ClinVar.

Average diagnostic coverage ~110x
Total GB sequenced – 15
SNV/CNV combinations

TEST DESCRIPTION

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

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).

SPECIMEN REQUIREMENTS

Standard sample requirements are 1-2 ml EDTA blood

TURNAROUND TIME

2-3 weeks from sample receipt

ACMG GENES

In addition to the investigation of variants associated with the patient ‘s phenotype, both the index patient and the parents may request an additional screening for relevant pathogenic variants within genes listed by the American College of Medical Genetics and Genomics according to current guidelines (ACMG SF V2.0; Kalia et al., 2017, PMID: 27854360).
This additional screening of ACMG genes allows the detection of relevant pathogenic variants outside the phenotype in a certain set of genes with a therapeutic relevance.
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 analyzed for minors, unless the phenotypic spectrum is within the scope of the primary medical indication of the patient.

METHODOLOGY

With approximately 20,000 intronic and intergenic variants,
Exome Xtra contains all genomic regions described as disease-related in HGMD and ClinVar.

Average diagnostic coverage ~110x
Total GB sequenced – 15
SNV/CNV combinations

TEST DESCRIPTION

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

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).

SPECIMEN REQUIREMENTS

Standard sample requirements are 1-2 ml EDTA blood

TURNAROUND TIME

2-3 weeks from sample receipt

ACMG GENES

In addition to the investigation of variants associated with the patient ‘s phenotype, both the index patient and the parents may request an additional screening for relevant pathogenic variants within genes listed by the American College of Medical Genetics and Genomics according to current guidelines (ACMG SF V2.0; Kalia et al., 2017, PMID: 27854360).
This additional screening of ACMG genes allows the detection of relevant pathogenic variants outside the phenotype in a certain set of genes with a therapeutic relevance.
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 analyzed for minors, unless the phenotypic spectrum is within the scope of the primary medical indication of the patient.

METHODOLOGY

With approximately 20,000 intronic and intergenic variants,
Exome Xtra contains all genomic regions described as disease-related in HGMD and ClinVar.

Average diagnostic coverage ~110x
Total GB sequenced – 15
SNV/CNV combinations

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.

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).

SPECIMEN REQUIREMENTS

Standard sample requirements are 1-2 ml EDTA blood

TURNAROUND TIME

2-3 weeks from sample receipt

ACMG GENES

In addition to the investigation of variants associated with the patient ‘s phenotype, both the index patient and the parents may request an additional screening for relevant pathogenic variants within genes listed by the American College of Medical Genetics and Genomics according to current guidelines (ACMG SF V2.0; Kalia et al., 2017, PMID: 27854360).
This additional screening of ACMG genes allows the detection of relevant pathogenic variants outside the phenotype in a certain set of genes with a therapeutic relevance.
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 analyzed for minors, unless the phenotypic spectrum is within the scope of the primary medical indication of the patient.