Germline genetic testing examines cancer predispositions and enables early treatment. Every fifth tumor develops due to a hereditary predisposition. Prevention is the most important measure in the fight against tumor diseases. Knowing predispositions and initiating appropriate early-detection examinations are central components in preventing metastatic and late-detected disease progression. Genetic tumor diagnosis is especially important for persons with a family history of cancer as it assesses their risk of developing cancer.
The Diagnostic Panel for Hereditary Tumor Diseases is based on exome sequencing with CeGaT ExomeXtra®. CeGaT ExomeXtra® covers all protein-coding regions as well as all known pathogenic intronic and intergenic variants. It thus provides the best basis for genetic diagnostics.
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What We Offer with the Panel for Hereditary Tumor Syndromes
Our Promise to You
Your Benefits
It is possible to request single or multiple predefined gene sets. In addition to the complete analysis of the genes of the requested gene set, we extend the analysis to all genes of the Diagnostic Panel for Hereditary Tumor Syndromes upon request. We report pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which could be related to the indication of the person seeking advice.
The Diagnostic Panel for Hereditary Tumor Syndromes is based on the CeGaT ExomeXtra® enrichment. This allows, without additional sequencing, phenotypically eligible gene sets of other CeGaT panels or single genes to be additionally ordered. If you would like to assemble an individual panel, please feel free to contact us. We will be happy to support you.
In addition to the primary diagnostic assignment, the assessment of ACMG genes and pharmacogenetic profiling may also be ordered.
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using an in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house. High throughput sequencing is performed on Illumina platforms. Bioinformatic processing of the data is achieved using an in-house computer cluster.
Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.
Sample Report
General Information
Material
- 1-2 ml EDTA blood (recommended sample type) or
- 1-2 µg genomic DNA
- Order Form with declaration of consent
Here you can find more information on how to ship your sample safely.
Turnaround Time
- Turnaround Time: < 4 Weeks
Costs
The prices for our human genetic diagnostics depend on the size of the selected Diagnostic Panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.
Colorectal Cancer
Colorectal Cancer (CAN01, 26 Genes)
APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1/SCG5, MBD4, MLH1, MSH2, MSH3, MSH6, MUTYH, NF1, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53
Associated MLPA-Set
APC, CHEK2, MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), MSH6, PMS2
Polyposis Syndromes (CAN11, 15 Genes)
APC, BMPR1A, GREM1/SCG5, MBD4, MSH3, MUTYH, NF1, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11
Associated MLPA
APC
Lynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer (HNPCC) (CAN12, 5 Genes)
EPCAM, MLH1, MSH2, MSH6, PMS2
Associated MLPA-Set
MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), MSH6, PMS2
MLH1 promoter methylation
Gynecologic Cancer
Gynecologic Cancer (CAN02, 20 Genes)
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PALB2, PMS2, POLD1, PTEN, RAD51C, RAD51D, STK11, TP53
Associated MLPA-Set
BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D
Gynecologic Cancer – Extended Diagnostics (Optional After/ Together with CAN02; Including Candidate Genes) (CAN21, 25 Genes)
ABRAXAS1, BAP1, BLM, CDC73, DICER1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MRE11, MUTYH, NBN, POLE, RAD50, RECQL4, RINT1, SLX4, SMARCA4, XRCC2
Gastrointestinal Neoplasia
Gastric Cancer (CAN13, 11 Genes)
APC, BRCA2, CDH1, CHEK2, EPCAM, KIT, MLH1, MSH2, MSH6, PDGFRA, PMS2
Associated MLPA-Set
APC, BRCA2, MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), MSH6, PMS2
Gastrointestinal Stromal Tumor (GIST) (CAN15, 7 Genes)
KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD
Gastroenteropancreatic Neuroendocrine Neoplasia (CAN16, 10 Genes)
CDKN1A, CDKN1B, CDKN2B, CDKN2C, MEN1, NF1, RET, TSC1, TSC2, VHL
Endocrine Tumors
Pheochromocytoma and Paraganglioma (CAN04, 16 Genes)
CDKN1B, EGLN1, FH, KIF1B, MAX, MDH2, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Thyroid Neoplasia (CAN17, 12 Genes)
APC, ATM, CDC73, CDKN1B, CHEK2, DICER1, MEN1, PTEN, RET, SDHB, SDHC, TP53
Associated MLPA
CHEK2
Isolated Familial Pituitary Adenoma (CAN23, 3 Genes)
AIP, CDKN1B, MEN1
Pancreatic Cancer
Pancreatic Cancer (CAN06, 14 Genes)
APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL
Associated MLPA-Set
BRCA1, BRCA2, MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), PALB2, PMS2
Tumors of the Central Nervous System
Tumors of the Central Nervous System (CAN51, 21 Genes)
APC, DICER1, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POT1, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL
Associated MLPA-Set
MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), MSH6, PMS2
Urological Tumors
Prostate Cancer (CAN03, 14 Genes)
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53
Associated MLPA-Set
BRCA1, BRCA2, CHEK2, MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), PALB2
Renal Cell Cancer (CAN07, 24 Genes)
BAP1, CDC73, CDKN1C, CHEK2, DICER1, EPCAM, FH, FLCN, GPC3, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, WT1
Associated MLPA-Set
CHEK2, MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), MSH6, PMS2
Urinary Tract Tumors (CAN19, 9 Genes)
ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH
Associated MLPA-Set
BRCA1, BRCA2, CHEK2, MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), MSH6
Skin Cancers
Melanoma (CAN09, 12 Genes)
ACD, BAP1, BRCA2, CDK4, CDKN2A, MBD4, MITF, POT1, PTEN, RB1, TERF2IP, TP53
Associated MLPA
BRCA2
Basal Cell Carcinoma (CAN20, 5 Genes)
BAP1, PTCH1, PTCH2, SUFU, TERT
Lung Cancer
Lung Cancer (CAN18, 5 Genes)
BRCA1, BRCA2, CHEK2, EGFR, TP53
Associated MLPA-Set
BRCA1, BRCA2, CHEK2
Solid Pediatric Tumors
Solid Pediatric Tumors (CAN22, 37 Genes)
ALK, APC, BLM, BRCA2, CTR9, DICER1, DIS3L2, EPCAM, GPC3, HRAS, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PALB2, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, RECQL4, REST, RET, SMARCA4, SMARCB1, STK11, SUFU, TP53, TRIM28, TSC1, TSC2, VHL, WT1
Associated MLPA-Set
BRCA2, MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘-region of EPCAM), MSH6, PALB2
Other Familial Tumor Diseases
Other Familial Tumor Diseases (CAN05, 33 Genes)
AKT1, ATR, BAP1, BLM, BRCA1, BRCA2, CDC73, CHEK2, CYLD, EPCAM, FH, FLCN, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PIK3CA, PMS2, PTEN, SDHB, SDHC, SDHD, SEC23B, SMARCB1, SPRED1, STK11, TP53, TSC1, TSC2, VHL, WRN
Associated MLPA-Set
BRCA1, BRCA2, CHEK2, MLH1, MSH2 (incl. deletions of epigenetically relevant elements in the 3‘ region of EPCAM), MSH6
For Xeroderma Pigmentosum (formerly CAN08) and Fanconi anemia (formerly CAN10) please refer to order forms skin diseases (DRM10) and blood disorders (BLD05).
Gene Directory – Panel for Hereditary Tumor Syndromes
ABRAXAS1, ACD, AIP, AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CHEK2, CTR9, CYLD, DDB2, DICER1, DIS3L2, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GPC3, GREM1/SCG5, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MBD4, MDH2, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL4, REST, RET, RINT1, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TRIM28, TSC1, TSC2, UBE2T, VHL, WRN, WT1, XPA, XPC, XRCC2
Additional Services
ACMG Genes
Genetic variation may sometimes be identified, which does not fit within the scope of the requested genetic analysis (so-called secondary findings). The reporting of these variants is limited to pathogenic alterations (ACMG classes 4 and 5) within selected genes, for which a treatment or course of action exists for you or your family (according to the current guidelines of the American College of Medical Genetics and Genomics; details on genes and associated diseases can be found here.
Pharmacogenetics
Pharmacogenetic analysis detects genetic changes that affect the effectiveness of drugs. Genetic variants that affect proteins responsible for the metabolism of substances can significantly change their tolerance and efficacy. These drugs include, among others, antidepressants, pain relievers, neuroleptics, chemotherapeutics, AIDS drugs, thrombosis drugs, anesthetics, beta-blockers, or statins.
The reduced activity of a specific enzyme can lead to an increased drug level in the standard dosage, which is often associated with undesirable side effects. With drugs that are only activated by metabolism, the therapeutic effect can be completely absent. Likewise, due to the resulting increased rate of degradation of the medicinal substance, an increased enzyme activity leads to inadequate effectiveness of the therapy.
The pharmacogenetics option analyzes known variants in 22 genes involved in the metabolism of drugs. If specific gene variants occur, the treating doctor can adapt the therapy individually. The pharmacogenetic analysis can minimize serious side effects and helps to avoid failure of the treatment.
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Diagnostic Support
We will assist you in selecting the diagnostic strategy – for each patient.
