Цитогенетические исследования — Независимая лаборатория ИНВИТРО – Цены

Взятие – ПН-СР

Chromosomal Microarray Analysis

Y-chromosome of the fetus in the mother's blood

RHD gene of the fetus in the mother's blood

Hereditary Predisposition to Celiac Disease (CD), HLA Class II Genes

Gestosis and Placental Insufficiency (Genes ACE, AGT, MTHFR, MTRR, MTR, F2, F5) (without Description)

Hereditary Breast and/or Ovarian Cancer, HBOC (Genes BRCA1, BRCA2)

Hereditary Breast and/or Ovarian Cancer, HBOC (Genes BRCA1, BRCA2) (without Description)

Hereditary Breast and/or Ovarian Cancer

Genetic Factors of Male Infertility (Genes AR, CFTR, AZF-Region)

Analysis of JAK2 Exon 12 mutations (PCR qualitative)

Arterial Hypertension: Full Panel (Genes ACE, AGT, NOS3)

Arterial Hypertension: Full Panel (Genes ACE, AGT, NOS3) (without Description)

Hereditary Breast and-or Ovarian Cancer

Hereditary Breast and-or Ovarian Cancer

Crohn's Disease (Genes DLG5, NOD2, OCTN1, OCTN2)

Adult Lactase Deficiency (Gene MCM6)

Hereditary pancreatitis (PRSS1, SPINK1 genes)

Hereditary Predisposition to Diabetes Type 1 (Insulin-Dependent Diabetes), HLA Class II (Genes DRB1, DQA1, DQB1)

Folic Acid Metabolism (Genes MTHFR, MTRR, MTR)

Folic Acid Metabolism (Genes MTHFR, MTRR, MTR) (without Description)

Прогнозирование нефропротективного эффекта ингибиторов АПФ при недиабетических заболеваниях. Генетические маркеры эффективности атенолола при артериальной гипертензии с гипертрофией левого желудочка или терапии флувастатином при ишемической болезни сердца. Определение наличия полиморфизмов гена ангиотензин-превращающего фермента (ген ACE). ACE Inhibitors, Fluvastatin, ATII Receptor Blockers. Forecasting Renoprotective Effect of ACE Inhibitors in Un-Diabetic Diseases. Genetic Markers of Effectiveness of Atenolol in Hypertension with Left Ventricular Hypertrophy or Fluvastatin Therapy in Ischemic Heart Disease. Detection of Polymorphisms of Gene of Angiotensin-Converting Enzyme (Gene ACE)

Interleukin 28 Beta IL28B, Genotyping (Study of Genetic Markers Determining Effectiveness of Treatment of Chronic Hepatitis C in Interferon and Ribavirin)

Cytochrome P450 2C19. Genotyping for the CYP2C19 marker

Dihydropyrimidine dehydrogenase (DPYD)

Thrombosis: Advanced Panel (Genes F2, F5, MTHFR, MTRR, MTR)

Thrombosis: Minimum (Genes F2, F5)

Thrombosis: Advanced Panel (Genes F2, F5, MTHFR, MTRR, MTR) (without Description)

Proconvertin gene study (coagulation factor VII), polymorphism F7 (10976G>A), without description

Cytochrome СYP2D6 (Gene СYP2D6)

Cytochrome CYP2C9 (Gene CYP2C9)

№№ 7201БЗ, 7611БЗ, 7014БЗ, 125ГП-БЗ, 7207БЗ

№№ 118ГП-БЗ, 121ГП-БЗ, 123ГП-БЗ, 131ГП-БЗ, 141ГП-БЗ, 115ГП-БЗ, 124ГП-БЗ, 154ГП-БЗ, 155ГП-БЗ

№№ 122ГП-БЗ, 129ГП-БЗ, 120ГП-БЗ, 137ГП-БЗ, 138ГП-БЗ, 153ГП-БЗ, 110ГП-БЗ, 114ГП-БЗ, 140ГП-БЗ, 7661БЗ

№№ 139ГПН-БЗ, 108ГП-БЗ, 19ГП-БЗ

Main Hereditary Diseases (Genes CFTR, GJB2, PAH, SMN)

Stargardt Disease 1, STGD1, Fundus Flavimaculatus Included, Gene ABCA4, Freq. Mut.

Acrodermatitis Enteropathica, Gene SLC39A4, Mut.

Albinism Oculocutaneous Type IA, Gene TYR, Mut.

Diamond-Blackfan Anemia 1, DBA1, Gene RPS19, Mut.

Arthrogryposis Distal Type 2A, Gene MYH3, Freq. Mut.

Friedrich Ataxia, Gene FXN, Mut.

Atelosteogenesis II, De la Chapelle Dysplasia, Gene SLC26A2, Mut.

Leber Hereditary Optic Neuropathy, LHON, Mitochondrial DNA, 12 Freq. Mut.

Leber Hereditary Optic Neuropathy, LHON, Mitochondrial DNA, 3 Freq. Mut.

Autoimmune Lymphoproliferative Syndrome, ALPS, Gene TNFRSF6, Mut.

Autoimmune Lymphoproliferative Syndrome, ALPS, Gene TNFRSF6, Hot-Point Mut.

Aphasia Primary Progressive, Gene GRN, Mut.

Best Vitelliform Macular Dystrophy, All Known Mutations, Gene BEST1, Mut.

Neurodegeneration With Brain Iron Accumulation 1, Gene PANK2, Freq. Mut.

Gerstmann-Straussler Disease, Gene PRNP, Mut.

Cowden Syndrome 1, Gene PTEN, Mut.

Creutzfeldt-Jakob Disease, Gene PRNP, Mut.

Lhermitte-Duclos Syndrome, Gene PTEN, Mut.

Norrie Disease, Gene NDP, Mut.

Progressive Myoclonic Epilepsy 1A Unverricht and Lundborg, Gene CSTB, Mut.

Progressive Myoclonic Epilepsy 1A Unverricht and Lundborg, Gene CSTB, Freq. Mut.

Brachydactyly Type B1, Gene ROR2, Mut.

Congenital Insensitivity To Pain With Anhidrosis, CIPA, Gene NTRK1, Mut.

Geleophysic Dysplasia 1, Gene ADAMTSL2, Mut.

Hemophilia B, Gene Factor IX, Mut.

Familial Hypercholesterolemia, Gene LDLR

Hyper-IgD Syndrome, Gene CD40LG, Mut.

Hyper-IgM Syndrome, Gene CD40LG, Mut.

Hyperkalemic Periodic Paralysis Type 2, Exons 13, 24 Gene SCN4A, Mut.

Hypokalemic Periodic Paralysis Type 1, Exons 12, 18, 19 Gene SCN4A, Mut.

Hypophosphatemic Vitamin D-Resistant Rickets, Gene PHEX, Mut.

Systemic Primary Carnitine Deficiency, SPCD, Carnitine Deficiency Systemic Primary, CDSP, Gene SLC22A5, Mut.

Diastrophic Dysplasia, Gene SLC26A2, Mut.

Distal Hereditary Motor Neuropathy, DHMN, Gene BSCL2, Mut.

Distal Spinal Muscular Atrophy 1, DSMA1, Gene IGHMBP2, Mut.

Distal Spinal Muscular Atrophy Congenital Non-Progressive, Gene TRPV4, Hot-Point Mut.

Ichthyosis Bullosa Of Siemens, Gene KRT2, Mut.

Progressive Osseous Heteroplasia, POH, Gene GNAS, Mut.

Craniometaphyseal Dysplasia, Gene ANKH, Hot-Point Mut.

Craniometaphyseal Dysplasia, Gene ANKH, Mut.

Craniosynostosis Type 2, Gene TWIST1, Mut.

Craniosynostosis Type 2, Gene MSX2, Mut.

Familial Partial Lipodystrophy 2, FPLD 2, Gene LMNA, Hot-Point Mut.

Familial Partial Lipodystrophy 2, Gene LMNA, Mut.

Mandibuloacral Dysplasia, Exons 8, 9 Gene LMNA, Mut.

Mevalonic Aciduria, Gene MVK, Mut.

Methemoglobinemia, Gene CYB5R3, Mut.

Methemoglobinemia, Gene CYB5R3, Freq. Mut.

Myoclonic Dystonia, Gene SGCE, Mut.

Myotonia Congenita, Gene CLCN1, Freq. Mut.

Cystic Fibrosis, Gene CFTR, Freq. Mut.

Duchenne Muscular Dystrophy, X-Lyonization, Girls

Muscular Dystrophy Fukuyama-Type, Gene FKTN, Mut.

Emery-Dreifuss Muscular Dystrophy, Gene FHL1, Mut.

Emery-Dreifuss Muscular Dystrophy, Gene LMNA, Mut.

Emery-Dreifuss Muscular Dystrophy, X-Linked Gene Emerine, Mut.

Muscle-Liver-Brain-Eye, Gene TRIM37, Mut.

Disorders Sex Determination, Gene SRY, Mut.

Disorders Sex Determination, Analysis Gene SRY, Mut.

Hereditary Neuropathy with Liability to Pressure Palsies, HNPP, Gene РМР22, Mut.

Hereditary Angioedema Type I, Gene C1NH, Mut.

Hemochromatosis Type 1 (Gene HFE)

Parietal Foramina, PFM, Gene ALX4, Mut.

Neutropenia Severe Congenital 1 Autosomal Dominant, SCN1, Gene ELA2, Mut.

Nephronophthisis 1, NPHP1, Gene NPHP1, Mut.

Nephrotic Syndrome Type 1, NPHS1, Gene NPHS1, Mut.

Nephrotic Syndrome Type 1, NPHS1, Gene NPHS2, Mut.

Normokalemic Periodic Paralysis, Exon 13 Gene SCN4A, Mut.

Osteopetrosis Autosomal Recessive 1, OPTB1, Gene TCIRG1, Freq. Mut.

Osteopetrosis Autosomal Recessive 1, OPTB1, Gene TCIRG1, Mut.

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1, Gene HPGD, Mut.

Primary Pulmonary Hypertension 1, PPH1, Gene BMPR2, Mut.

Familial Mediterranean Fever, FMF, Gene MEFV, Mut.

Retinitis Pigmentosa, Gene RP2, Mut.

Pyknodysostosis, PKND, Gene CTSK, Mut.

Primary Spontaneous Pneumothorax, PSP, Gene FLCN, Mut.

Polydactyly, Gene SHH, Mut.

Polydactyly, Gene GLI3, Mut.

Hutchinson-Gilford Progeria Syndrome, Gene LMNA, Mut.

Pseudoxanthoma Elasticum, Gene ABCC6, Freq. Mut.

Myoglobinuria Acute Recurrent Autosomal Recessive, Gene LPIN1, Mut.

Retinoschisis 1 X-Linked Juvenile, RS1, Gene RS1, Mut.

Familial Hemophagocytic Lymphohistiocytosis, Gene PRF1, Mut.

Familial Hemophagocytic Lymphohistiocytosis, Gene STX11, Mut.

Familial Hemophagocytic Lymphohistiocytosis, Gene STXBP2, Mut.

Familial Hemophagocytic Lymphohistiocytosis, Gene UNC13D, Mut.

Familial Hemophagocytic Lymphohistiocytosis, Gene UNC13D, Freq. Mut.

Familial Medullary Thyroid Cancer (Exons 10, 11, 13, 14, 15 Gene RET)

Familial Meddulary Thyroid Cancer, Exons 5, 8 Gene RET, Mut.

Familial Cold Autoinflamatory Syndrome, FCAS, Gene NLRP3, Mut.

Hereditary Sensory and Autonomic Рolyneuropathy, Gene NGF, Mut.

Chronic Infantile Neurologic Cutaneous Articular, Gene NLRP3, Mut.

Thrombocytopenia-Absent Radius Syndrome, TAR-Syndrome, Gene RBM8A, Mut.

Aarskog-Scott Syndrome, Faciodigitogenital Syndrome, Faciogenital Dysplasia, Gene FGD1, Mut.

Alström syndrome, Gene ALMS1, Hot-Point Mut.

Andersen-Tawil Syndrome, Gene KCNJ2, Mut.

Antley-Bixler Syndrome, ABS, Exon 9 Gene FGFR2, Mut.

Apert Syndrome, AS, Gene FGFR2, Freq. Mut.

Art's Syndrome, Gene PRPS1, Mut.

Bannayan-Ruvalcaba-Riley Syndrome, Gene PTEN, Mut.

Birt-Hogg-Dube Syndrome, BHD, Gene FLCN, Mut.

Bowen Conradi Syndrome, BCS, Gene EMG1, Mut.

Bjornstad Syndrome, Gene BCS1L, Mut.

Waardenburg Syndrome, WS, Gene PAX3, Mut.

Waardenburg-Shah Syndrome, Gene EDNRB, Mut.

Van der Woude Syndrome, Gene IRF6, Mut.

Wiskott-Aldrich Syndrome, WAS, Gene WAS, Mut.

Congenital Central Hypoventilation Syndrome, CCHS, Gene PHOX2B, Freq. Mut.

Albinism Оculocutaneous, Hermansky-Pudlak Тype, Gene HPS1, Freq. Mut.

Greig Syndrome, Gene GLI3, Mut.

Griscelli Syndrome, Gene RAB27A, Mut.

Jackson-Weiss Syndrome, JWS, Exon 9 Gene FGFR2, Exon 7A Gene FGFR1, Mut.

Joubert Syndrome, Cerebelloparenchymal Disorder IV, CPD IV, Classic Joubert Syndrome, Joubert Syndrome type A, Joubert-Boltshauser Syndrome, Pure Joubert Syndrome, Gene NPHP1, Mut.

Carpenter Syndrome, Gene RAB23, Mut.

Keratitis-Ichthyosis-Deafness Syndrome, KID Syndrome, Gene GJB2, Mut.

Klippel-Feil Syndrome, Gene GDF6, Mut.

Cockayne Syndrome, Gene ERCC6, Mut.

Costello Syndrome, Gene HRAS, Mut.

Coffin-Lowry Syndrome, Gene RPS6KA3, Mut.

Craniofacial-Deafness-Hand Syndrome, CDHS, Gene PAX3, Mut.

Crigler-Najjer Syndrome, Gene UGT1, Mut.

Crouzon Syndrome with Acanthosis Nigrican, CAN, Exon 10 Gene FGFR3, Mut.

Crouzon Syndrome, Exons 7, 9 Gene FGFR2, Mut.

Muckle-Wells Syndrome, MWS, Gene NLRP3, Mut.

McLeod Syndrome, Gene XK, Mut.

Multiple Endocrine Neoplasia Type 2A (Exons 10, 11 Gene RET)

Multiple Endocrine Neoplasia Type 2B (Gene RET)

Mowat-Wilson Syndrome, Gene ZEB2, Mut.

Nijmegen Breakage Syndrome, NBS, Gene NBN, Freq. Mut.

Nail-Patella Syndrome, NPS, Onychoosteodysplasia, Gene LMX1B, Mut.

Rendu-Osler-Weber Disease, Gene ENG, Mut.

Pallister W Syndrome, Gene TBX3, Mut.

Pallister-Hall Syndrome, Gene GLI3, Mut.

Popliteal Pterygium Syndrome, PPS, Gene IRF6, Mut.

Pfeiffer Syndrome, Exons 7, 9 Gene FGFR2, Exon 7A Gene FGFR1, Mut.

Retts Syndrome, Gene MECP2, Mut.

Saethre-Chotzen Syndrome, Gene TWIST1, Mut.

Silver Syndrome, Gene BSCL2, Mut.

Simpson-Golabi-Behmel Syndrome, Type 1, SGBS1, Gene GPC3, Mut.

Smith-Lemli-Opitz Syndrome, Gene DHCR7, Mut.

Testicular Feminization Syndrome, Gene AR, Mut.

Treacher-Collins Syndrome, Franceschetti-Klein Syndrome, Mandibulofacial Dysostosis without Limb Anomalies, Gene TCOF1, Mut.

Von Hippel-Lindau Syndrome, VHL, Von Hippel-Lindau Hereditary Cancer Syndrome, Gene VHL, Mut.

Von Hippel-Lindau Syndrome, VHL, Von Hippel-Lindau Hereditary Cancer Syndrome, Gene VHL, Copy Number Variation Gene VHL, Mut.

Shwachman-Diamond Syndrome, Gene SBDS, Mut.

Shwachman-Diamond Syndrome, Gene SBDS1, Freq. Mut.

Ehlers-Danlos Syndrome, Type VI, Gene PLOD, Freq. Mut.

Escobar Syndrome, Gene CHRNG, Mut.

Spinal Muscular Atrophy (SMA) with Diaphragmatic Paralysis, Gene IGHMBP2, Mut.

Spinal Muscular Atrophy, SMA, Type I, II, III, IV, Gene SMN1, Mut. (Only Presence One Gene Copy

Spinocerebellar Ataxia, Gene ATXN7 Freq. Mut.

Spinocerebellar Ataxia, Gene ATXN8, Freq. Mut.

Spongiform Encephalopathy with Neuropsychiatric Features, Gene PRNP, Mut.

Spondylocostal Dysostosis, Gene DLL3, Mut.

Spondyloepiphyseal Dysplasia Tarda, SEDT, Gene TRAPPC2, Mut.

Phosphoribosylpyrophosphate Synthetase Superactivity, PRS Superactivity, Gene PRPS1, Mut.

Trichorhinophalangeal Syndrome, TRPS, Gene TRPS1, Mut.

Congenital Amegakaryocytic Thrombocytopenia, CAMT, Gene MPL, Mut.

Fatal Familial Insomnia, FFI, Gene PRNP, Mut.

Phenylketonuria, PKU, Gene PAH, Mut.

Phenylketonuria, PKU, Gene PAH, Freq. Mut.

Whole Exome Sequencing

Fibrodysplasia Ossificans Progressiva, FOP, Gene ACVR1, Hot-Point Mut.

Fibrodysplasia Ossificans Progressiva, FOP, Gene ACVR1, without Hot-Point Mut.

Metaphyseal Chondrodysplasia, McKusick Type, Gene RMRP, Mut.

Chondrodysplasia Punctata, CDP, Conradi-Hunermann Syndrome, Gene EBP, Mut.

Chondrocalcinosis, Calcium Pyrophosphate Dihydrate, CPPD, Gene ANKH, Mut.

Choroideremia, CHM, Gene CHM, Mut.

Chronic Granulomatous Disease, CGD, Gene CYBB, Mut.

X-Linked Agammaglobulinemia, XLA, Gene BTK, Mut.

X-Linked Lymphoproliferative Syndrome, XLP, Gene XIAP, Mut.

X-Linked Lymphoproliferative Syndrome, XLP, Gene SH2D1A, Mut.

X-Linked Nystagmus congenital 1, NYS1 X-Linked, Gene FRMD7, Mut.

X-Linked Severe Combined Immunodeficiency, Gene IL2RG, Mut.

Cerebrooculofacioskeletal Syndrome, COFS Syndrome, Gene ERCC6, Mut.

Multiple Exostoses, Gene EXT1, Mut.

Multiple Exostoses, Gene EXT2, Mut.

Familial Exudative Vitreoretinopathy, FEVR, Gene NDP, Mut.

Anhidrotic Ectodermal Dysplasia, Gene EDA, Mut.

Hidrotic Ectodermal Dysplasia, Gene GJB6, Mut.

Multiple Epiphysial Dysplasia, MED, Gene COMP, Freq. Mut.

Multiple Epiphysial Dysplasia, MED, Gene SLC26A2, Mut.

Erythrokeratodermia, Gene GJB3, Mut.

Erythrokeratodermia, Gene GJB4, Mut.

Autosomal Recessive Erythrocytosis, Gene VHL, Mut.

Autosomal Recessive Erythrocytosis, Gene VHL, Freq. Mut.

Molecular Genetic Testing HLA-B27

Hereditary fructose intolerance (ALDOB gene)

Hereditary prostate cancer (HOXB13 gene)

Fuchs endothelial dystrophy (gene TCF4)

Diagnosis of uveitis (HLA-B27, HLA-B51, HLA-A29)

Pompe disease (GAA gene)

Friedrich Ataxia, Gene FXN, Freq. Mut.

Wilson Disease, Gene ATP7B, Freq. Mut.

Hyper-IgD Syndrome, Gene MVK, Hot-Point Mut.

Myotonic Dystrophy 1, Gene DMPK, Freq. Mut.

Duchenne Muscular Dystrophy, Dystrophin Gene Deletion, Boys

Hereditary Neuropathy with Liability to Pressure Palsies, HNPP, Gene РМР22, Copy Number Variation

Oculopharyngeal Muscular Dystrophy, OPMD, Gene RABPN1, Freq. Mut.

TNF-Receptor-Associated Periodic Syndrome, TRAPS, Gene TNFRSFIA, Mut.

Gilbert's Syndrome (Gene UGT1A1)

Spinal Muscular Atrophy, SMA, Type I, II, III, IV, Copy Number Variation

Kennedy Spinal and Bulbar Muscular Atrophy, Gene AR, Freq. Mut.

Chorea Huntington, Gene IT15, Freq. Mut.

Familial Mediterranean Fever, FMF, Gene MEFV, Freq. Mut.

Fabry disease. GLA gene

IGHV mutational status, PCR

BRCA1, BRCA2 genes analysis by Next-Generation Sequencing (NGS) in blood

BRCA1, BRCA2, ATM, CHEK2, PALB2 genes analysis by Next-Generation Sequencing (NGS) in blood)