Complex genetic screening
Our complex genetic screenings include tests with which we sequence and analyse all scientifically important genes that play a role in a given disease or syndrome. In most of the cases, mutations in genes manifest as risk factors. This means that by analysing and identifying the alterations in your genetic code we can help you plan your future, pointing out the specific conditions you should take care of in order to have a healthier and longer life. Revealing the mutations in your genes can call your attention to the medical screenings you should attend more often. Early identification of a health problem largely increases the probability of recovery.
The Hereditary Tumour Gene Panel includes full sequencing of more than 90 different genes . All of these genes are similar in that they may harbour hereditary mutations which increase your susceptibility to different types of cancer. In addition, the panel includes the examination of more than 300 points in your genome that are related to tumour formation. We recommend the Hereditary Tumour Gene Panel if different types of cancer occur frequently in your family. This test can identify the point mutation in your genome that is responsible for cancer. This information may help you plan your life more wisely by pointing out the medical screens you should visit more often or how you should change your lifestyle. It can even help in the early identification of cancer or in preventing and delaying your disease.
The Somatic Tumour Gene Panel helps to identify which genes are mutated in your tumour. These panels include genes that are often mutated during tumour formation thus helping the growth and survival of that given tumour. The 26 or 48 gene panels focus mainly on those genes that are currently targeted in personalized cancer therapy and for the mutations of which drugs are available or will be soon available. Therefore, a Somatic Tumour Gene Panel testing can help shape the tumour therapy according to your personal genetic profile. The 160 gene panel provides much wider screening, which obviously includes the genes from the 26 and 48 panels, and also includes other genes that may be important for the full genetic profile of your tumour and help in predicting the progression of your cancer.
This panel includes only those genes from the Human Exome Panel that have already been identified as being the cause of a disease or their mutations significantly contribute to the development of a clinical symptom. The Clinincal Exome Panel screens approximately 60.000 exons from about 4800 genes. The main advantage of the Clinical Exome Panel is targeted testing when an identified predisposition is present, or if the symptoms and family background directly point to a genetic disease. A fast and precise diagnosis is the first and most important step for the patient on the way towards recovery.
ABL1 | BUB1B | DDR2 | FGFR2 | IDH2 | MEN1 | PDGFRA | SMARCA4 |
AKT1 | CARD11 | DICER1 | FGFR3 | IKZF1 | MET | PHF6 | SMARCB1 |
AKT2 | CBL | DNMT3A | FH | IL6ST | MLH1 | PIK3CA | SMO |
ALK | CBLB | ECT2L | FLCN | IL7R | MSH2 | PIK3R1 | SPOP |
AMER1 | CD79A | EGFR | FLT3 | JAK1 | MSH6 | PMS2 | SRC |
APC | CD79B | EP300 | FUBP1 | JAK2 | MTOR | PPP2R1A | STK11 |
AR | CDC73 | EPCAM | GATA1 | JAK3 | MUTYH | PRDM1 | SUFU |
ARID1A | CDH1 | ERBB2 | GATA2 | KDM6A | MYC | PRKAR1A | TERT |
ARID2 | CDK12 | ERBB3 | GATA3 | KDR | MYD88 | PTCH1 | TNFAIP3 |
ASXL1 | CDK4 | ERBB4 | GNA11 | KIT | NF1 | PTEN | TNFRSF14 |
ATM | CDKN2A | ERCC5 | GNAQ | KLF6 | NF2 | PTPN11 | TP53 |
ATRX | CHEK2 | ESR1 | GNAS | KMT2D | NFE2L2 | RAC1 | TSC1 |
BAP1 | CIC | EZH2 | GPC3 | KRAS | NFKBIA | RB1 | TSC2 |
BCL6 | CREBBP | FAM46C | GRIN2A | MAP2K1 | NOTCH1 | RET | TSHR |
BCOR | CRLF2 | FANCA | H3F3A | MAP2K2 | NOTCH2 | ROS1 | U2AF1 |
BRAF | CSF1R | FANCD2 | HIST1H3B | MAP2K4 | NPM1 | SDHB | VHL |
BRCA1 | CTNNB1 | FANCE | HNF1A | MAP3K1 | NRAS | SETD2 | WT1 |
BRCA2 | CYLD | FAS | HRAS | MAP4K3 | PALB2 | SF3B1 | XPC |
BRIP1 | DAXX | FBXO11 | HSPH1 | MDM2 | PAX5 | SLC7A8 | ZNF2 |
BTK | DDB2 | FBXW7 | IDH1 | MED12 | PBRM1 | SMAD4 | ZRSR2 |
AKT1 | EGFR | GNAS | NRAS | STK11 |
ALK | ERBB2 | KIT | PDGFRA | TP53 |
APC | FBXW7 | KRAS | PIK3CA | |
BRAF | FGFR2 | MAP2k1 | PTEN | |
CDH1 | FOXL2 | MET | SMAD4 | |
CTNNB1 | GNAQ | MSH6 | SRC |
ABL1 | EGFR | GNAS | MLH1 | RET |
AKT1 | ERBB2 | HNF1A | MPL | SMAD4 |
ALK | ERBB4 | HRAS | NOTCH1 | SMARCB1 |
APC | FBXW7 | IDH1 | NPM1 | SMO |
ATM | FGFR1 | JAK2 | NRAS | SRC |
BRAF | FGFR2 | JAK3 | PDGFRA | STK11 |
CDH1 | FGFR3 | KDR | PIK3CA | TP53 |
CDKN2A | FLT3 | KIT | PTEN | VHL |
CSF1R | GNA11 | KRAS | PTPN11 | |
CTNNB1 | GNAQ | MET | RB1 |