Molecular checks

It become possible to analyze each specific patient’s tumor and to form an individual list of potential target molecules because of introduction of molecular genetic analysis methods into clinical practice.

Scientific laboratories of molecular oncology of the world's leading oncology medical clinics perform a full range of modern molecular genetic studies for both patients and their relatives who may be carriers of pathological genes

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Why are tumors forms in body?

The reason for tumor appearance is mutations, that is, genetic disorders that have arisen in one of the billions of cells in human body. These mutations disrupt the normal functioning of cells, which leads to their uncontrolled and unlimited growth, reproduction and spread throughout the body – metastasis.

However, the presence of such mutations makes it possible to distinguish tumor cells from healthy ones and use this knowledge in treatment of oncological patients.

Whom and what can molecular genetic research help?

Patients with an established oncological diagnosis

Molecular genetic research will help to choose effective drug therapy (personalized oncology), to create an individual effective drugs (targeted therapy, immunotherapy)

Healthy people with a family "cancer history"

To determinate of a predisposition to certain malignant diseases and to provide preventive measures in advance

Every person is a carrier of certain mutations that are dangerous either for us or for our future generations

Directions of molecular genetic research

Detection of hereditary mutations using genome sequencing

Tumor reserch, the spectrum of mutations acquired by malignant cells, in connection with which it arose

A whole-body genome study to compare the tumor's DNA sequence with the DNA sequence in the body

We cooperate with the world's best laboratories

Maimonides Clinic collaborates with such institutions in Germany, Israel and USA, which enables our patients to access innovative molecular tests and the creation of effective drugs against a variety of malignant diseases. Also, thanks to molecular genetic diagnostics, it is possible to establish an accurate diagnosis and prescribe the most effective and modern treatment protocols.

Перелік молекулярно-генетичних досліджень

  • FoundationOne LIQUID CDX
  • FoundationOne Heme
  • FoundationOne CDx
  • Hereditary cancer diagnostic panels or individual genes
  • CARIS test
  • 4Kscore test
  • Decipher
  • Actin, SMA
  • MyGene BRCA1/2 (full spectrum of inherited mutations in BRCA1/2 genes, NGS, blood, Illumina) | N
  • MyGene HRR (32-gene panel for screening of hereditary ovarian, prostate, breast and pancreatic cancer, blood, Illumina) | N
  • Hereditary mutations of BRCA1 (5 mutations) and BRCA2 (1 mutation), blood, PCR
  • myAction TrueSight 500 (complete analysis of mutations and fusions in 500 genes (DNA and RNA, NGS, Illumina) | N
  • MyAction 18&18 (Full Spectrum of Clinically Significant Genetic Abnormalities for Lung, Thyroid Cancer, NGS, Histology/Cytology Material, Illumina) | N
  • Panel for lung cancer ALK/ROS1/RET/C-MET skipping 14 (PCR, detection of ALK, ROS1, RET rearrangements and c-MET exon 14 loss based on RNA analysis) | N EGFR signaling pathway panel EGFR, KRAS, NRAS, BRAF | N
  • EGFR (Exons 18; 19; 20; 21) (PCR) KRAS (Codons 12; 13; 59; 61; 117; 146) (PCR)
  • EGFR (Exons 18; 19; 20; 21) (PCR) KRAS (Codons 12; 13; 59; 61; 117; 146) (PCR)
  • C-MET amplification (FISH)
  • ALK translocation (FISH)
  • ROS1 translocation (FISH)
  • Liquid biopsy with determination of mutations in the EGFR gene, including T790M (exons 18-21, blood, PCR, ctDNA)
  • Liquid biopsy with mutations determination in the KRAS gene (Codons 12; 13; 59; 61; 117; 146) (PCR) in ctDNA
  • NTRK gene fusion (RNA panel, PCR)
  • HER-2/neu amplification (FISH)
  • BRAF (V600) (PCR)
  • PD-L1 (22C3), sensitivity to immunotherapy
  • Determination of microsatellite instability (MSI) status (PCR)
  • Determination of DNA complementary error repair proteins (microsatellite tumor stability/instability)
  • RET translocation (FISH)
  • MyAction Solid, 67 genes (solid tumor panel, histology, NGS, Illumina) | N
  • MyAction BRCA1/2 (full panel of hereditary and somatic mutations in BRCA1/2 genes, histological material, NGS, Illumina) | N
  • MyAction 32 HRR Genes (Prostate, Ovarian, Breast and Pancreatic Cancer Panel, Histology, NGS, Illumina) | N
  • PIK3CA (exon 9 and 20) (PCR)
  • Liquid biopsy with mutations determination in PIK3CA gene (exon 9 and 20) (PCR) in ctDNA
  • HER-2/neu amplification (FISH)
  • PD-L1 (22C3), sensitivity to immunotherapy
  • Determination of microsatellite instability (MSI) status (PCR)
  • Determination of DNA complementary error repair proteins (microsatellite tumor stability/instability)
  • Genetic diagnosis panel of translocations in solid tumors (50 genes: AKT3, ALK, ARHGAP26, AXL, BRD3, BRD4, EGFR, EGFR, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR , INSR, MAML2, MAST1, MAST2, MET, MSMB, MUSK, MYB, NOTCH1, NOTCH2, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PDGFRA, PDGFRB, PIK3CA, PKN1, PPARG, PRKCA, PRKCB, RAF1, RELA , RET, ROS1, RSPO2, RSPO3, TERT, TFE3, TFEB, THADA, TMPRSS2) (NGS) | N
  • MyAction Solid, 67 genes (solid tumor panel, histology, NGS, Illumina) | N
  • Determination of microsatellite instability (MSI) status (PCR)
  • Determination of DNA complementary error repair proteins (microsatellite tumor stability/instability)
  • Diagnosis of colorectal cancer (KRAS, NRAS, BRAF, PIK3CA, AKT) PCR
  • KRAS (Codons 12; 13; 59; 61; 117; 146) (PCR)
  • NRAS (codons 12; 13; 59; 61; 117; 146) (PCR)
  • BRAF (V600) (PCR)
  • HER-2/neu amplification (FISH)
  • PIK3CA (exon 9 and 20) (PCR)
  • Liquid biopsy with mutations determination in PIK3CA gene (exon 9 and 20) (PCR) in ctDNA
  • Liquid biopsy with determination of mutations in the BRAF gene (blood, PCR, ctDNA)
  • Liquid biopsy with mutations determination in the KRAS gene (Codons 12; 13; 59; 61; 117; 146) (PCR) in ctDNA
  • Genetic diagnosis panel of translocations in solid tumors (50 genes: AKT3, ALK, ARHGAP26, AXL, BRD3, BRD4, EGFR, EGFR, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR , INSR, MAML2, MAST1, MAST2, MET, MSMB, MUSK, MYB, NOTCH1, NOTCH2, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PDGFRA, PDGFRB, PIK3CA, PKN1, PPARG, PRKCA, PRKCB, RAF1, RELA , RET, ROS1, RSPO2, RSPO3, TERT, TFE3, TFEB, THADA, TMPRSS2) (NGS) | N
  • PD-L1 (22C3), sensitivity to immunotherapy
  • DPYD (IVS14+1G>A) Determination of hereditary predisposition to the development of toxicity during therapy with fluoropyrimidines (5-FU, capecitabine, etc.)
  • UGT1A1, determination of hereditary predisposition to the development of toxicity during Irinotecan therapy
  • C-KIT (Exons 9, 11, 13, 17) and PDGFRA (Exon 18 (D842V) (PCR)
  • C-KIT (exons 9, 11, 13, 17) (PCR)
  • EWSR1 translocation (FISH)
  • Amplification of CDK4 (FISH)
  • Amplification of MDM2 (FISH)
  • Disruption of the ETV6 gene (12p13) to confirm NTRK3/ETV6 translocation (FISH)
  • PDGFRB translocation (FISH)
  • SYT translocation (FISH)
  • Spitz nevus and melanoma diagnostics, FISH (4 samples)
  • BRAF (V600) (PCR)
  • Determination of microsatellite instability (MSI) status (PCR)
  • Determination of DNA complementary error repair proteins (tumor microsatellite stability/instability)
  • IDH1/2 (PCR)
  • MGMT (methyl-specific PCR)
  • Amplification of N-MYC (FISH) | N
  • Deletion of 1p36 for brain tumors
  • Deletion of 19q13 in brain tumors
  • BRAF translocation (FISH)
  • Determination of microsatellite instability (MSI) status (PCR)
  • Determination of DNA complementary error repair proteins (microsatellite tumor stability/instability)
  • Genetic diagnosis panel of translocations in solid tumors (50 genes: AKT3, ALK, ARHGAP26, AXL, BRD3, BRD4, EGFR, EGFR, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR , INSR, MAML2, MAST1, MAST2, MET, MSMB, MUSK, MYB, NOTCH1, NOTCH2, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PDGFRA, PDGFRB, PIK3CA, PKN1, PPARG, PRKCA, PRKCB, RAF1, RELA , RET, ROS1, RSPO2, RSPO3, TERT, TFE3, TFEB, THADA, TMPRSS2) (NGS) | N
  • Mutations in the TERT gene, PCR
  • MyAction Solid, 67 genes (solid tumor panel, histology, NGS, Illumina) | N
  • MyAction BRCA1/2 (full panel of hereditary and somatic mutations in BRCA1/2 genes, histological material, NGS, Illumina) | N
  • MyAction 32 HRR Genes (Prostate, Ovarian, Breast and Pancreatic Cancer Panel, Histology, NGS, Illumina) | N
  • Determination of microsatellite instability (MSI) status (PCR)
  • Determination of DNA complementary error repair proteins (microsatellite tumor stability/instability)
  • Genetic diagnosis panel of translocations in solid tumors (50 genes: AKT3, ALK, ARHGAP26, AXL, BRD3, BRD4, EGFR, EGFR, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR , INSR, MAML2, MAST1, MAST2, MET, MSMB, MUSK, MYB, NOTCH1, NOTCH2, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PDGFRA, PDGFRB, PIK3CA, PKN1, PPARG, PRKCA, PRKCB, RAF1, RELA , RET, ROS1, RSPO2, RSPO3, TERT, TFE3, TFEB, THADA, TMPRSS2) (NGS) | N
  • MyAction 18&18 (Full Spectrum of Clinically Significant Genetic Abnormalities for Lung, Thyroid Cancer, NGS, Histology/Cytology Material, Illumina) | N
  • Thyroid cancer diagnostics (BRAF, NRAS, KRAS, HRAS) PCR BRAF (V600) (PCR)
  • KRAS (Codons 12; 13; 59; 61; 117; 146) (PCR)
  • NRAS (codons 12; 13; 59; 61; 117; 146) (PCR)
  • Mutations in the TERT gene, PCR
  • Diagnosis of myeloproliferative diseases and acute myeloblastic leukemia, mutations in 37 genes (ABL1, ANKRD26, ASXL1, BCOR, BRAF, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2 , JAK2, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2) (NGS) | N
  • Diagnosis of acute myeloblastic leukemia (basic) (FISH). Translocations t(8;21) (RUNX1/RUNX1T1), inv(16)(p11q22)/t(16;16) (CBFB/MYH11), 11q23 KMT2A (MLL).
  • Diagnostic of acute myeloblastic leukemia (standard) (FISH). Translocations t(8;21)(RUNX1/RUNX1T1), inv(16)(p11q22)/t(16;16) (CBFB/MYH11), 11q23 KMT2A (MLL), t(15;17) (PML/RARA) , t(9;22) (BCR/ABL1)
  • Diagnostic of acute myeloblastic leukemia (maximum) (FISH). Translocations t(8;21)(RUNX1/RUNX1T1), inv(16)(p11q22)/t(16;16) (CBFB/MYH11), 11q23 KMT2A (MLL), t(15;17) (PML/RARA) , t(9;22) (BCR/ABL1), inv(3)(q21q26.2), t(3;3)(q21;q26.2) (GATA2/MECOM), 9q34 (NUP214)
  • Diagnostic of myelodysplastic syndrome (basic) (FISH). Deletion of 5q, 7q
  • Diagnosis of myelodysplastic syndrome (standard) (FISH). Deletion of 5q, 7q, 17p
  • Diagnosis of myelodysplastic syndrome (maximum) (FISH). Deletion of 5q, 7q, 11q, 17p, 20q
  • Translocation inv (16) (p11q22)/t(16;16) (CBFB/MYH11) (FISH)
  • 11q23 KMT2A translocation (MLL) (FISH)
  • BCR-ABL1 “Philadelphia chromosome” t(9;22)(q34.1;q11.2) (FISH)
  • BCR-ABL1 P210 (Mbcr) “Philadelphia chromosome” (reverse transcriptase PCR) JAK2 V617F (PCR)
    JAK2 V617F (PCR)
  • Translocation t(15;17)(q22;q12) (PML/RARA) (FISH)
  • Translocation 9q34 (NUP214) (FISH)
  • Diagnostic of acute leukemias (t(8;21) (AML1-ETO), Inv 16 (CBFB-MYH11), t(4;11) (MLL-AF4), t(12;21) (TEL-AML1), t( 1;19) (E2A-PBX1) and t(15;17) (PML-RARA)) reverse transcriptase PCR
  • 7q deletion (FISH)
    PDGFRB translocation (FISH)
  • Inversion inv(3)(q21q26.2) and translocation t(3;3)(q21;q26.2) (GATA2/MECOM) (FISH)
  • 20q12 deletion (PTPRT/MYBL2) (FISH)
  • Translocation t(8;21)(q22;q22) RUNX1/RUNX1T1 (AML1/ETO) (FISH)
  • Translocation t(15;17)(q22;q12) (PML/RARA) (FISH)
  • Deletion 5q31.2 (EGR1/5p15) (FISH)
  • Diagnosis of acute B-lymphoblastic leukemia (FISH). Translocations t(9;22)(q34.1;q11.2) (BCR/ABL1), 12p13 (ETV6), 11q23 KMT2A (MLL)
  • BCR-ABL1 “Philadelphia chromosome” t(9;22)(q34.1;q11.2) (FISH)
  • BCR-ABL1 P210 (Mbcr) “Philadelphia chromosome” (reverse transcriptase PCR) JAK2 V617F (PCR)
  • 11q23 KMT2A translocation (MLL) (FISH)
  • 11q23 KMT2A translocation (MLL) (FISH)
  • Diagnostics of lymphomas (Translocations of 33 genes, mutations of 35 genes, RNA expression of 44 genes, splicing of 1 gene) (NGS) | N
  • Diagnostics of highly aggressive B-cell lymphoma (FISH). Translocations t(14;18) (BCL2), t(3;14) (BCL6), t(8;14) (MYC)
  • Diagnostics of chronic B-lymphocytic leukemia (FISH). Deletions 17p13.1 (TP53), 11q22 (ATM), 13q12 (RB1)
  • Diagnostics of myeloma disease (I stage) (FISH). Translocation 14q32 (IGH), deletion 13q12, 17p13, 1q21/1p32)
  • Diagnostics of myeloma disease (II stage) (FISH). Translocations t(14;20) (MAFB/IGH), t(14;16) (MAF/IGH), t(4;14) FGFR3/IGH, t(11;14) (CCND1/IGH)
  • Diagnostics of myeloma disease (maximum) (FISH). Translocations t(14;20) (MAFB/IGH), t(14;16) (MAF/IGH), t(4;14) FGFR3/IGH, t(11;14) (CCND1/IGH), deletion 13q12, 17p13, 1q21/1p32)
  • Epstein-Barr virus (EBV) DNA (CISH)
  • mRNA expression of kappa and lambda immunoglobulins (IgK/IgL) (CISH)
  • Translocation t(3;14) (BCL6) (FISH)Translocation t(4;14)(p16.3;q32.3) FGFR3/IGH (FISH)
  • Translocation t(8;14) (IGH/MYC) (FISH) in lymphomas
  • Translocation t(11;14)(q13.3;q32.3) (CCND1/IGH) (FISH)
  • Translocation t(11;18) BIRC3(API2)/ MALT1 (FISH)
  • Translocation t(14;16)(q32.3;q23) (MAF/IGH) (FISH)
  • Translocation t(14;18) (BCL2) (FISH)
  • Translocation t(14;20)(q32.3;q12) (MAFB/IGH) (FISH)
  • 11q23 KMT2A (MLL) (FISH)L265P translocation in the MYD88 gene (sequencing) | N
  • Clonality of TCR-beta and TCR-gamma (BIOMED-2 PCR with fragment analysis) | N
  • Clonality of IgH, IgK and IgL (BIOMED-2 PCR with fragment analysis) | N
  • MYC translocation (FISH) Deletion 17p13.1 (TP53) (FISH)
  • Deletion of 17p13.1 (TP53) and 11q22 (ATM) and (FISH)
  • Translocation of IGH (FISH)
  • Deletion 11q22 (ATM) (FISH)
  • Deletion 13q12 (RB1) (FISH)
  • Deletion/amplification of 6p25 (RREB1) and 6q23 (MYB)
  • Liquid biopsy with determination of mutations in the BRAF gene (blood, PCR, ctDNA)
  • Liquid biopsy with determination of mutations in the EGFR gene, including T790M (exons 18-21, blood, PCR, ctDNA)
  • Liquid biopsy with mutations determination in the KRAS gene (Codons 12; 13; 59; 61; 117; 146) (PCR) in ctDNA
  • Liquid biopsy with mutations determination in PIK3CA gene (exon 9 and 20) (PCR) in ctDNA
  • DNA isolation and quality control
  • Molecular genetic consultation
  • Amplification of 1q21.3-q22 (CKS1B) and/or 1p32.2 (CDKN2C) (FISH)
  • Determination of a mutation in the VHL gene (Hippel-Lindau syndrome) by the NGS method N
  • Determination of the level of methylation in the VHL gene (Hippel-Lindau syndrome) by the PCR method N

Molecular genetic research (non-oncology)

  • DNA analysis to establish biological paternity of 2 persons (Father+child) | N | M
  • Determination of lactose intolerance. PCR | N
  • Folate cycle, gene polymorphism (MTHFR, MTR, MTRR). PCR | N
  • Genetic diagnosis of cystic fibrosis (determination of 12 mutations) | N
  • Genetic diagnosis of cystic fibrosis (determination of 21 mutations) | N
  • Genetic diagnosis of phenylketonuria (identification of 11 mutations) | N
  • Genetic diagnosis of thalassemia | N
  • Genetic diagnosis of Huntington's chorea | N
  • Hereditary forms of premature ovarian failure (FMRI – fragile X-chromosome, FSHR – follicle-stimulating hormone receptor, INHa – inhibin A receptor) | N
  • Prader-Willi and Angelman syndrome N
  • Karyotype (1 person, blood, cytogenetic study) | N
  • Failure to carry pregnancy (blood coagulation genes, folate cycle, endothelial dysfunction) | N
  • Genetics. Thrombophilia. Habitual abortion (F2, F5, F7, F13, FGB, ITGA2, ITGB3, SERPINE (PAI-1)) (PCR) | N
  • Genetic diagnostic of fragile X-chromosome syndrome (determination of CGG repeats in the FMR1 gene, PCR) | N
  • Genetic diagnosis of spinal muscular atrophy SMA (SMN1 gene deletion analysis, PCR) | N
  • Genetic diagnosis of Duchenne muscular dystrophy (deletion analysis) for boys | N
  • Microdeletion Y-chromosome study in disorders of spermatogenesis (PCR) | N
  • ONCOTYPE DX Breast Recurrence Score determination of the risk of relapse of the Luminal subtype of breast cancer (stage I-III A) | N
  • ONCOTYPE DX Breast DCIS Score determination of the risk of recurrence of ductal carcinoma in situ of the breast | N
  • NGS panel for lymphomas (fusions and mutations in 33 genes + mutations in 35 genes + expression of 40 genes + NOTCH1 splicing) | N
  • NGS panel for sarcoma (fusions and mutations in 27 genes) | N
  • GynCore Mutation NGS Panel (BRCA1, BRCA2, BCOR, MLH1, MSH2, MSH6, PMS2, NRAS, TP53, POLE, POLD1, ARID1A, CTNNB1, KRAS, PIK3CA, PTEN) | N
  • ALOX12B sequencing (Sanger sequencing) | N
  • ALOXE3 sequencing (Sanger sequencing) | N
  • APC sequencing (Sanger sequencing) | N
  • ATP7B sequencing (Sanger sequencing) | N
  • AVPR2 sequencing (Sanger sequencing) | N
  • Sequencing of BAP1 (Senger sequencing) | N
  • CTNNB1 sequencing (1) (Sanger sequencing of exon 3) | N
  • CTNNB1 sequencing (3) (Sanger sequencing of exons 3/7/8) | N
  • BHD sequencing (Sanger sequencing) | N
  • CDK4 + CDKN2A sequencing (Sanger sequencing) | N
  • Celiac disease – HLA DQ2, DQ8 (sequence specific PCR) | N
  • Sequencing of exons 9/11/13/17 of the C-KIT gene N
  • Sequencing of exons 9/11/13/17 C-KIT + and exons 12/14/18 PDGFRA | N
  • Sequencing CYLD (by Sanger) | N
  • Sequencing of EGFR exons 18/19/20/21 | N
  • Sequencing EVER1 (Senger sequencing) | N
  • EVER2 sequencing (Sanger sequencing) | N
  • Identification of mutation c.402C>G (p.Cys134Trp) FOXL2 (Senger sequencing) | NSequencing of GNAS1 (by Sanger) | N
  • Sequencing of exon 2 H3F3A and exon 2 H3F3B | N
  • Determination of H63D, S65C and C282Y in the HFE gene by Sanger sequencing | N
  • Sequencing of HRAS exons 2/3/4 (by Sanger) | N
  • Sequencing of exons 4 of the IDH1 + IDH2 genes N
  • Determination of IL28B rs12979860 polymorphism (Sanger sequencing) | N
  • KRAS exon 2/3/4 sequencing (by Sanger) | N
  • KRT1 sequencing (by Sanger) | N
  • KRT10 sequencing (by Sanger) | N
  • MET sequencing (by Sanger) | N
  • MLH1 sequencing (by Sanger) | N
  • MSH2 sequencing (by Sanger) | N
  • MSH6 sequencing (by Sanger) | N
  • Sequencing MUTYH (by Sanger) | N
  • Sequencing of NF2 (by Sanger) | N
  • NRAS exon 2/3/4 sequencing (by Sanger) | N
  • Exon Sequencing 12/14/18 PDGFRA (by Sanger) | N
  • PMS2 sequencing (by Sanger) | N
  • Sequencing of PTCH1 (by Sanger) | N
  • Sequencing of PTCH1 (by Sanger) | N
  • SDH sequencing (SDHB + SCDC + SDHD) (by Sanger) | N
  • STS sequencing (by Sanger) | N
  • Mutations identification in the TERT promoter region (Senger sequencing) | N
  • TGM1 sequencing (by Sanger) | N
  • Determination of the rs3750920 polymorphism in the TOLLIP gene (Senger sequencing) | N
  • Sequencing of TP53 (by Sanger) | N
  • Fragment analysis and sequencing of UGT1A1 coding exons (by Sanger) | N
  • Gilbert's syndrome. Analysis of repeats (TA) of the UGT1A gene | N

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