Research on heriditary risks
Checklist
1. Assessment of hereditary risks of developing cancer
| Investigated marker | Associated diseases | Method of determination |
|---|---|---|
| BRCA1 / BRCA2 |
Breast cancer in women Ovarian cancer Breast cancer in men Prostate cancer Pancreatic cancer Colon cancer Melanoma |
PCR |
|
Molecular sequencing |
||
| CHEK2 |
Breast cancer in women Ovarian cancer |
Molecular sequencing |
| TP53 | Li-Fraumeni syndrome: (breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenal cortex tumors, ovarian cancer) |
Molecular sequencing |
| ARS | Familial adenomatous polyposis (multiple GI polyps) |
Molecular sequencing |
| MUTYH | MUTYH-associated polyposis (multiple GI polyps) |
Molecular sequencing |
| SMAD4 | Juvenile polyposis syndrome (multiple polyps of the gastrointestinal tract at an early age, mucocutaneous telangiectasias, cardiopulmonary and other abnormalities) |
Molecular sequencing |
| STK11 | Peutz-Jegers syndrome: (hamartomas of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, thyroid cancer, malignant tumors of the gastrointestinal tract, organs of the reproductive system, pancreas) |
Molecular sequencing |
| PTEN | Cowden's syndrome: (multiple gastrointestinal hamartomas, thyroid cancer, breast cancer, skin and mucous membrane lesions, benign tumors of the reproductive system, macrocephaly, mental retardation) |
Molecular sequencing |
| REТ | Familial medullary thyroid cancer Multiple endocrine neoplasia syndrome (MEN) |
Molecular sequencing |
| VHL | Hereditary kidney cancer |
Molecular sequencing |
| CDKN2A | Hereditary melanoma |
Molecular sequencing |
| Isolation of DNA from blood. Highlighted once when defining several indicators. | ||
2. Assessment of hereditary risks of developing non-oncological diseases
| Investigated marker | Associated states | Method of determination |
|---|---|---|
| UGT1A1 |
Gilbert's syndrome (increased bilirubin levels) |
Molecular sequencing |
| Clotting factor V gene |
Venous thrombosis (strokes, heart attacks) Miscarriage Folic acid deficiency (fetal malformations) |
PCR |
| Prothrombin gene | PCR | |
| MTHFR | PCR | |
| HFE | Hemochromatosis |
Molecular sequencing |
| ATP7B | Wilson-Konovalov disease |
Molecular sequencing |
| Isolation of DNA from blood. Highlighted once when defining several indicators. | ||
3. Molecular profiling of tumors
| Investigated marker | Medicine | Type of tumor | Method of determination |
|---|---|---|---|
|
Mutations in the BRAF gene (Exon 15) |
Dabrafenib, Vemurafenib, Trametinib, Cobimetinib | Melanoma |
Molecular sequencing |
| Cetuximab, Panitumumab | Colorectal cancer | ||
|
Mutations in the EGFR gene (18, 19, 20, 21 exons) Erlotinib, Gefitinib, Afatinib, Osimertinib NSCLC |
Erlotinib, Gefitinib, Afatinib, Osimertinib, Dacomitinib | Non-small cell lung cancer |
Molecular sequencing |
|
Mutations in the KRAS gene (2, 3, 4 exons) |
Cetuximab, Panitumumab | Colorectal cancer |
Molecular sequencing |
| Erlotinib, Gefitinib, Afatinib, Osimertinib, Dacomitinib | Non-small cell lung cancer | ||
|
Mutations in the NRAS gene (2, 3, 4 exons) |
Cetuximab, Panitumumab | Colorectal cancer |
Molecular sequencing |
|
Mutations in the cKIT gene (9, 11, 13, 17 exons) |
Imatinib, Sunitinib, Sorafenib | Gastrointestinal tumors |
Molecular sequencing |
|
Mutations in the PDGFRA gene (12, 18 exons) |
Imatinib | Gastrointestinal tumors |
Molecular sequencing |
|
Mutations in the IDH1 / 2 gene (Exon 4) |
Temozolomide, Dacarbazine | Tumors of the brain |
Molecular sequencing |
|
Mutations in the RET gene (Exon 16) |
Vandetanib | Thyroid cancer |
Molecular sequencing |
|
Mutations in the PI3K gene (9, 20 exons) |
Everolimus, Temsirolimus | Mammary cancer |
Molecular sequencing |
| Colorectal cancer | |||
| Non-small cell lung cancer | |||
|
Mutations in the HER2 gene (20 exons) |
Trastuzumab, Lapatinib | Non-small cell lung cancer |
Molecular sequencing |
| Microsatellite status (MSI) | 5-fluorouracil | Colorectal cancer | Fragment analysis |
| Pembrolizumab,Nivolumab | |||
| Methylation of the MGMT gene | Temozolomide, Dacarbazine | Brain tumor | PCR |
| Mutations in BRCA1/BRCA2 genes | Carboplatin, Cisplatin, Oxaliplatin | Breast cancer | PCR |
| Ovarian cancer | |||
| Olaparib, Iniparib | Ovarian cancer | ||
| Polymorphisms of the UGT1A1 gene (promoter region) | Irinotecan (toxicity) | Colorectal cancer |
Molecular sequencing |
| DPYD gene polymorphisms (13, 22 exons/13 introns) | Fluorouracil (toxicity) | Colorectal cancer |
Molecular sequencing |
| Isolation of DNA from tumor tissue. It is allocated once when several indicators are defined. | |||
| translocation of the ALK gene | Crizotinib, Ceritinib, Alectinib, Brigatinib | non-small Cell lung cancer | FISH |
| Pemetrexed | |||
| Translocation of the ROS1 gene | Crizotinib, Ceritinib | Non-small cell lung cancer | FISH |
| MET gene amplifications | Erlotinib, Gefitinib, Afatinib, Osimertinib, Dacomitinib | Non-small cell lung cancer |
|
|
Gene amplification HER-2/neu |
Trastuzumab, Lapatinib, Pertuzumab, TDM-1 | Breast cancer | FISH |
| Cetuximab, Panitumumab | Colorectal cancer | ||
| Palbociclib | Breast cancer | ||
| CCND1 gene amplification | Tamoxifen | Breast cancer | FISH |
| Amplification of the CDK4 gene | Palbociclib | Liposarcoma | FISH |
4. differential diagnosis of cancer
| Marker under study | Type of tumor | Method for determining |
|---|---|---|
| Translocation (8,14)(q24;q32) | Differential diagnosis of Burkitt 's lymphoma | FISH |
| Translocation (11,14)(q13;q32) | Differential diagnosis of mantle zone lymphoma | FISH |
| Translocation (14,18)(q32;q21) | Differential diagnosis of follicular lymphoma | FISH |
| Deletion 1p36 | Differential diagnosis of low-grade follicular lymphoma | FISH |
| Translocation (14,18)(q32;q21) | Differential diagnosis of malt lymphoma; | FISH |
| Translocation (11,18)(q22;q21) | Differential diagnosis of malt lymphoma | FISH |
| MYC/Bcl2/ Bcl6 gene rearrangements | Differential diagnosis of B-cell lymphomas (double-hit, triple-hit) | FISH |
| Aberration 11q | Differential diagnosis of Burkitt-like lymphoma | FISH |
| Rearrangement of the IRF4 gene | Differential diagnosis of large B-cell lymphoma with IRF4 gene rearrangement | FISH |
| TP53 gene deletion / isochromosome i (17q) | Differential diagnosis of chronic lymphocytic leukemia / small lymphocyte lymphoma | FISH |
| Deletion of the D13S319 gene (13q14.2) | Differential diagnosis of chronic lymphocytic leukemia / small lymphocyte lymphoma | FISH |
| Rearrangement of the ewsr1 gene | Differential diagnosis of Ewing's sarcoma | FISH |
| Rearrangement of the SS18 gene | Differential diagnosis of synovial sarcoma | FISH |
| Rearrangement of the FOXO1 gene | Differential diagnosis of the alveolar subtype of rhabdomyosarcoma | FISH |
| FUS gene rearrangement | Differential diagnosis of low-grade fibromyxoid sarcoma | FISH |
| Rearrangement of the DDIT3 gene | Differential diagnosis of myxoid liposarcoma | FISH |
| Rearrangement of the MDM2 gene | Differential diagnosis of dedifferentiated liposarcoma | FISH |
| COL1A1 / PDGFB translocation | Differential diagnosis of dermatofibrosarcoma | FISH |
| Myb gene rearrangement | Differential diagnosis of adenocystic carcinoma | FISH |
| Deletion of genes 1p36 and 19q13 | Differential diagnosis and determination of the prognosis of glial tumors | FISH |
| Mutations in genes IDH1 / 2 | Differential diagnosis and determination of the prognosis of glial tumors | PCR |
| Molecular sequencing |
5. Diagnosis of chronic Ph-negative myeloproliferative diseases
| Tracked marker | Associated ingredients | Method for determining |
|---|---|---|
|
JAK2 (Exons 12 and 14) |
Osler Essential thrombocytemia Idiopathic myelofibrosis | Molecular sequencing |
|
CALR (9 exon) |
Essential thrombocytemia Idiopathic myelofibrosis | Molecular sequencing |
|
MPL (10 exon) |
Essential thrombocytemia Idiopathic myelofibrosis |
|
| Isolation of DNA from blood. It is allocated only once when determining monthly indicators. | ||
6. assessment of the immune status
| Tracked marker | Method for determining |
|---|---|
| Determination of linear yield, subpopulations and functional activity of T-And B-lymphocytes using monoclonal antibodies (cellular immunity) | Flow cytometry |
| Immunophenotyping of lymphoproliferative diseases; | Flow cytometry |
7. Diagnosis of autoimmune coincidences
| Tracked marker | Method for determining |
|---|---|
| Determination of Ig/ L immunoglobulin light chains, Kappa type | Nephelometry |
| Determination of Ig/ L immunoglobulin light chains, lambda type; | Nephelometry |
| Determination of secretory immunoglobulin G (single) | Nephelometry |
| Determination of secretory immunoglobulin G4 | Nephelometry |
| Determination of secretory immunoglobulin A | Nephelometry |
| Determination of secretory immunoglobulin m & nbsp; | Nephelometry |
| Determination of the secretory immunoglobulin E & nbsp; | Nephelometry |
| Defining a C3c extension component; | Nephelometry |
| Defining the C4 extension component; | Nephelometry |
| IgG antibodies to hepatic-renal microsomes (autoimmune hepatitis type 2) (LKM-1) | SOFTWARE |
| IgG antibodies to M-2 mitochondrial antigen in blood serum (primary biliary cirrhosis) | SOFTWARE |
| Antibodies to proteinase-3 | SOFTWARE |
| Antibodies to myeloperoxidase | SOFTWARE |
| Antibodies to internal factor | SOFTWARE |
| IDA / IgG antibodies to deamidated gliadin peptidam | SOFTWARE |
| IDA/ IgG antibodies to tissue transglutaminase | SOFTWARE |
| IDM / IgG antibodies to the cardiolipin-beta-2-glycoprotein 1 complex; | SOFTWARE |
| IDM / IgG antibodies to beta-2-glycoprotein 1 | SOFTWARE |
| IgG x antibodies to glomerular basement membrane (GBM) protein) | SOFTWARE |
| IgG x 8 antibodies to cellular and nuclear antigens (screening) in human serum: (ANA-8s) - U1-snRNP 70 CDL, SS-B, SS-a 60/52 CDL, Scl-70, Cenp-B, Jo-1, snRNP complex (snRNP/Sm), Sm.; | SOFTWARE |
| Autoantibodies to the extract of NER2 cells enriched with nuclear antigens (dsDNA ,SS-B, SS-a 60/52 CDL, Scl-70, Jo-1, snRNP-complex (snRNP/Sm), Sm) | SOFTWARE |
| IgG x 70 CDL antibody fragment of DNA topoisomerase (Scl-70) (scleroderma antigen) | SOFTWARE |
| IDA antibodies to SACCHAROMYCES CEREVISIAE (ASCA) (Crohn's disease) | SOFTWARE |
| IgG X SACCHAROMYCES CEREVISIAE (ASCA) antibodies (Crohn's disease) | SOFTWARE |
| IgG / IgM antibodies rheumatoid factors (rheumatoid arthritis) | SOFTWARE |
| Antibodies to citrulline peptide (rheumatoid arthritis) | SOFTWARE |
| IgG x double-stranded DNA antibodies; | SOFTWARE |
| IDM x double-stranded DNA antibodies; | SOFTWARE |
8. Diagnosis of viral infections
| Marker under study | Method for determining |
|---|---|
| HBs antigen (screening) | IFA |
| HBs-antigen (confirming) | IFA |
| Antibodies to the HBs antigen | IFA |
| IgM/IgG antibodies to HCV (screening)/ (confirming) | IFA |
| Antibodies to individual hepatitis C virus proteins (core, NS3, NS4, NS5) | IFA |
| IgM/IgG class antibodies to tick-borne encephalitis virus | IFA |
| Determination of hepatitis B virus (HBV) DNA (qualitative) | PCR |
| Determination of hepatitis B virus (HBV) DNA (quantitative) | PCR |
| Determination of hepatitis C virus (HCV) DNA (qualitative)/(quantitative) | PCR |
| Identification and differentiation of genotypes 1a, 1b, 2, 3A, 4, 5A, 6 HCV | PCR |
| IgM/IgG antibodies to herpes Simplex virus (HSV)I-II | IFA |
| IgG antibodies to herpes simplex virus (HSV) HSV6 | IFA |
| IgG antibodies to cytomegalovirus (CMV) | IFA |
| VCAIgG/IgM; EBNAIgG; EarlyAntigenIgM/IgG antibodies to Epstein-Barr virus (EBV) | IFA |
| IgM/IgG antibodies to rubella virus | IFA |
| Herpes simplex virus (HSV) DNA detection)I-II | PCR |
| Detection of DNA of herpes simplex virus (HSV)6 | PCR |
| Cytomegalovirus (CMV) DNA detection | PCR |
| Determination of Epstein-Barr virus (EBV) DN | PCR |
|
Genotyping of high-risk human papillomavirus (HPV) (16,18,31,33,35,39,45, 52, 56,58,59 types) |
PCR |
|
Quantitative determination of the viral load of high-risk human papillomavirus (HPV) (16,18,31,33,35,39,45, 52, 56,58,59 types) |
PCR |
| Determination of human papillomavirus (HPV) DNA of low oncogenic risk (6,11 types) | PCR |
| Detection of IDM /IgG to the Epstein-Barr virus capsid antigen (EpsteinBarrVCAIgG) | IFA |
| Detection of IgG to the Epstein-Barr virus nuclear antigen(EpsteinBarrEBNAIgG) | IFA |
| Detection of IgM / IgG antibodies to the early antigens of Epstein-Barr (EpsteinBarrEarlyAntigen) | IFA |
| IDM / IgG antibodies to measles virus | IFA |
9. diagnosis of bacterial infections
| Marker under study | Method for determining |
|---|---|
| IDM/IgG antibodies to Chlamydia trachomatis | IFA |
| Class G antibodies to the main outer membrane protein (MOMP) and the plasmid protein Pgp3 Chlamydiatrachomatis | IFA |
| Class G antibodies to the heat shock protein (HSP60) Chlamydiatrachomatis | IFA |
| Antibodies IgM/IgG antibodies to Chlamydia pneumonia | IFA |
| IDM/IgG antibodies to Mycoplasma pneumonia | IFA |
| Antibodies to the Sada-antigen of Helicobacter Pylori | IFA |
| Total IgM, IgG, and IgA class antibodies to the CagAHelicobacterpylori protein | IFA |
| IDA/IgG antibodies to Helicobacter Pylori | IFA |
| Total antibodies to Mycobacterium tuberculosis | IFA |
| IDA/IgG antibodies to Trichomonas vaginalis | IFA |
| IDA/IgG antibodies to Ureaplasmurealitikum | IFA |
| Antibodies IgA/ IgG antibodies to Mycoplasma of hominis | IFA |
| IDM/IgG antibodies to pathogens of ixodic tick-borne borreliosis (Lyme disease) | IFA |
| Determination of Trichomonas vaginalis DNA | PCR |
| Determination of Chlamydia trachomatis DNA | PCR |
| Determination of Chlamydia pneumonia DNA | PCR |
| Determination of Ureaplasmyurealitikum DNA | PCR |
| Determination of Ureaplasma DNA (U. parvum and U. urealyticum) | PCR |
| Determination of DNA Ureaplasmas | PCR |
| Determination of Mycoplasma hominis DNA | PCR |
| Determination of Mycoplasma genitalium DNA | PCR |
| Determination of Neisseriagonorrhoeae DNA |
|
| Determination of Mycoplasma pneumoniae DNA | PCR |
| Parvovirus B19 DNA detection | PCR |
| Definition of rrncchlamydiatrachomatis | PCR |
| Definition of rrnkneisseriagonorrhoeae | PCR |
| Determination of rrncmycoplasmagenitalium | PCR |
| Definition of rrnctrichomonasvaginalis | PCR |
| Determination of DNA of methicillin-sensitive and methicillin-resistant Staphylococcus Aureus, methicillin-resistant coagulase-negative Staphylococcus spp. | PCR |
| Determination of Pseudomonasaeruginosa DNA | PCR |
|
Diagnosis of bacterial vaginosis (Gardnerellavaginalis, Atopobiumvaginae, Lactobacillusspp., Bacteria) |
PCR |
|
Diagnosis of aerobic vaginitis (Enterobacteriaceae, Streptococcusspp., Staphylococcusspp., Lactobacillusspp.) |
PCR |
|
Diagnostics of vulvovaginal candidiasis (Candida albicans, Candida glabrata, Candida krusei, Candida tropicalis /Candida parapsilosis) |
PCR |
| Determination of DNA of Shigella bacteria (Shigellaspp.) and enteroinvasive E. coli (EIEC), Salmonella (Salmonellaspp.), thermophilic Campylobacterspp.) | PCR |
10. Diagnosis of diseases caused by parasites, protozoa, fungi
| Marker under study | Method for determining |
|---|---|
| IDM /IgG antibodies to Trichinella | IFA |
| IgG antibodies to Toxocara | IFA |
| IgG antibodies to Ascarids | IFA |
| IDM/IgG antibodies to Opisthorchis | IFA |
| IgG antibodies to Echinococcus | IFA |
| Detection of echinococcal antigen | IFA |
| IDM/IgG antibodies to Toxoplasma | IFA |
| Total antibodies to Giardia | IFA |
| IDM antibodies to Giardia | IFA |
| IgG antibodies to fungi of the genus Candida | IFA |
| IgG antibodies to fungi of the genus Aspergillus | IFA |
| Determination of gondii Toxoplasma DNA | PCR |
| Determination of Candida albicans DNA | PCR |
11. determination of the functional state of the thyroid gland
| Marker under study | Method for determining |
|---|---|
| Thyroid-stimulating hormone (thyrotropin, thyrotropin) | IFA, RIA |
| T4 General | IFA, RIA |
| T4 free | IFA, RIA |
| T3 General | IFA, RIA |
| T3 free | IFA, RIA |
| At-TPO (thyroid peroxidase antibodies) | IFA, RIA |
| At-TG (thyroglobulin antibodies) | IFA, RIA |
| Calcitonin | IFA |
| T-Uptake (Thyroxine binding capacity of human serum or plasma) | IFA |
| TG (thyroglobulin) | IFA, RIA |
| Marker under study | Method for determining |
|---|---|
| Progesterone | IFA, RIA |
| Prolactin | IFA, RIA |
| Testosterone | IFA, RIA |
| Estradiol | IFA, RIA |
| Luteinizing hormone (LH) | IFA, RIA |
| Follicle-stimulating hormone (FSH) | IFA, RIA |
| Anti-Muller hormone (AMH) | IFA |
| Marker under study | Method for determining |
|---|---|
| Cortisol | IFA, RIA |
| ACTH (determination of adrenocorticotropic hormone) | IFA, RIA |
| DHEA -S | IFA, RIA |
15. Determination of tumor markers
| Marker under study | Method for determining |
|---|---|
| Squamous cell carcinoma (SCC) antigen | IFA |
| CEA | IFA |
| CA 125 | IFA |
| HE4 (with calculation of the ROMA index) | IFA |
| DOG'S | IFA |
| PSA free | IFA |
| HCG | IFA |
| free β-HCG | IFA |
| Ferritin | IFA |
| NSE | IFA |
| S 100 | IFA |
| Cyfra-21-1 | IFA |
| CA 72-4 | IFA |
| AFP | IFA |
| CA 19-9 | IFA |
| CA 15-3 | IFA |
| Pepsinogen 1, Pepsinogen 2, Pepsinogen 1/Pepsinogen 2 | IFA |
16. Diagnosis of anemia
| Marker under study | Method for determining |
|---|---|
| Vitamin B12 | IFA |
| Ferritin | IFA |
| Folate | IFA |
17. Diagnosis of osteoporosis
| Marker under study | Method for determining |
|---|---|
| Parathyroid hormone (1-84) | IFA |
| Total vitamin D | IFA |
| Osteocalcin | IFA |
| B-CrossLaps | IFA |
| N-thermal propeptideprocollagen type 1 | IFA |