GENETIC TESTING
Genetic sequencing:
Personalized medicine's next step
- SINGLE GENE SEQUENCING
- GERMLINE TUMOR SYNDROMES
- SOMATIC TUMOR DIAGNOSTIC
- PREVENTION PANEL
- MOLECULAR PATHOLOGY
- 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
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.