Панель «Наследственные заболевания сердца и нарушения липидного обмена»
NGS секвенирование со средней кратностью покрытия от 70х без верификации по Сэнгеру
Список заболеваний см. в Приложении 1
Код:
MP-1830
Cроки анализа:
30 рабочих дней
20000 ₽
Информация для врачей
Список анализируемых геном в NGS панели
«Наследственные заболевания сердца и нарушения липидного обмена»
| Наследственные заболевания сердца | ||
| Gene | Disease | Name |
| ABCC6 | pseudoxanthoma elasticum | ATP Binding Cassette Subfamily C Member 6 |
| ABCC9 | DCM | ATP Binding Cassette Subfamily C Member 9 |
| ACTA2 | familial thoracic aortic aneurysms | Actin Alpha 2, Smooth Muscle |
| ACTC1 | DCM, HCM | Actin Alpha Cardiac Muscle 1 |
| ACTN2 | DCM | Actinin Alpha 2 |
| AKAP9 | LQT | A-Kinase Anchoring Protein 9 |
| ANK2 | LQT | Ankyrin 2 |
| ANKRD1 | DCM | Ankyrin Repeat Domain 1 |
| BAG3 | DCM | BAG Family Molecular Chaperone Regulator 3 |
| BRAF | RASopathy | B-Raf Proto-Oncogene, Serine/Threonine Kinase |
| CACNA1C | LQT | Calcium Voltage-Gated Channel Subunit Alpha1 C |
| CACNA2D1 | Brugada syndrome | Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta |
| CACNB2 | Brugada syndrome | Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2 |
| CALM1 | LQT | Calmodulin 1 |
| CALM2 | LQT | Calmodulin 2 |
| CALM3 | LQT | Calmodulin 3 |
| CALR3 | HCM | Calreticulin 3 |
| CASQ2 | CPVT | Calsequestrin 2 |
| CAV3 | HCM, LQT | Caveolin 3 |
| CBL | HCM | Casitas B-lineage Lymphoma Proto-Oncogene |
| COL3A1 | CTD, Ehlers-Danlos Syndrome | Collagen Type III Alpha 1 Chain |
| CRYAB | DCM | Crystallin Alpha B |
| CSRP3 | DCM, HCM | Cysteine And Glycine Rich Protein 3 |
| CTF1 | DCM | Cardiotrophin 1 |
| DES | DCM | Desmin |
| DMD | DCM, Duchenne and Becker MD | Dystrophin |
| DMPK | Steinert myotonic dystrophy syndrome | DM1 Protein Kinase |
| DSC2 | ARVC | Desmocollin 2 |
| DSG2 | ARVC | Desmoglein 2 |
| DSP | ARVC | Desmoplakin |
| DTNA | DCM, HCM | Dystrobrevin Alpha |
| EMD | DCM | Emerin |
| EYA4 | DCM | EYA Transcriptional Coactivator And Phosphatase 4 |
| FBN1 | CTD, Marfan syndrome | Fibrillin 1 |
| FHL1 | HCM, X-linked myopathies, Emery–Dreifuss | Four And A Half LIM Domains 1 |
| FHL2 | HCM | Four And A Half LIM Domains 2 |
| FHOD3 | HCM | formin homology 2 domain‐containing 3 |
| FKTN | DCM | Fukutin |
| FLNC | HCM, DCM | gamma isoform of Filamin C |
| FXN | HCM | Frataxin |
| GAA | HCM | Lysosomal Alpha-Glucosidase |
| GATAD1 | DCM (a-recessive) | GATA Zinc Finger Domain Containing 1 |
| GLA | HCM, Fabry | Galactosidase Alpha |
| GPD1L | ARVC | Glycerol-3-Phosphate Dehydrogenase 1 Like |
| HCN4 | ARVC | Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4 |
| HRAS | Costello syndrome | HRas Proto-Oncogene, GTPase |
| ILK | HCM, DCM | Integrin Linked Kinase |
| JPH2 | HCM | Junctophilin 2 |
| JUP | ARVC | Junction Plakoglobin |
| KCND3 | Brugada syndrome | Potassium Voltage-Gated Channel Subfamily D Member 3 |
| KCNE1 | LQT | Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1 |
| KCNE2 | LQT | Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2 |
| KCNE3 | Brugada syndrome | Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3 |
| KCNE5 | Brugada syndrome | Potassium Voltage-Gated Channel Subfamily E RegulatorySubunit 5 |
| KCNH2 | LQT | Potassium Voltage-Gated Channel Subfamily H Member 2 |
| KCNJ2 | LQT, CPVT | Potassium Inwardly Rectifying Channel Subfamily J Member 2 |
| KCNJ5 | LQT | Potassium Inwardly Rectifying Channel Subfamily J Member 5 |
| KCNJ8 | LQT | Potassium Inwardly Rectifying Channel Subfamily J Member 8 |
| KCNQ1 | LQT | Potassium Voltage-Gated Channel Subfamily Q Member 1 |
| KRAS | RASopathy | KRAS Proto-Oncogene, GTPase |
| LAMA4 | DCM | Laminin Subunit Alpha 4 |
| LAMP2 | DCM, HCM | Lysosomal Associated Membrane Protein 2 |
| LDB3 | DCM | LIM Domain Binding 3 |
| LMNA | DCM | Lamin A/C |
| MAP2K1 | HCM | Mitogen-Activated Protein Kinase Kinase 1 |
| MAP2K2 | HCM | Mitogen-Activated Protein Kinase Kinase 2 |
| MEF2A | CAD | Myocyte Enhancer Factor 2A |
| MRPL3 | HCM | Mitochondrial Ribosomal Protein L3 |
| MYBPC3 | DCM, HCM | Myosin Binding Protein C3 |
| MYH11 | familial thoracic aortic aneurysms | Myosin Heavy Chain 11 |
| MYH6 | DCM | Myosin Heavy Chain 6 |
| MYH7 | DCM, HCM | Myosin Heavy Chain 7 |
| MYL2 | HCM | Myosin Light Chain 2 |
| MYL3 | HCM | Myosin Light Chain 3 |
| MYLK2 | HCM | Myosin Light Chain Kinase 2 |
| MYOM1 | HCM | Myomesin 1 |
| MYOZ2 | HCM | Myozenin 2 |
| MYPN | DCM, HCM | Myopalladin |
| NEBL | DCM, HCM | Nebulette/ Actin-Binding Z-Disk Protein |
| NEXN | DCM | Nexilin F-Actin Binding Protein |
| NF1 | HCM | Neurofibromin 1 |
| NRAS | RASopathy | NRAS Proto-Oncogene, GTPase |
| PDLIM3 | DCM, HCM, ARVC | PDZ And LIM Domain 3 |
| PKP2 | ARVC | Plakophilin 2 |
| PLN | DCM, HCM | Phospholamban |
| PRKAG2 | HCM | Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 |
| PSEN1 | AD, DCM | Presenilin 1 |
| PSEN2 | AD, DCM | Presenilin 2 |
| PTPN11 | Noonan syndrome | Protein Tyrosine Phosphatase Non-Receptor Type 11 |
| RAF1 | RASopathy | Raf-1 Proto-Oncogene, Serine/Threonine Kinase |
| RANGRF | ARVC | RAN Guanine Nucleotide Release Factor |
| RBM20 | DCM | RNA Binding Motif Protein 20 |
| RYR2 | ARVC, CPVT | Ryanodine Receptor 2 |
| SCN1B | Brugada syndrome | Sodium Voltage-Gated Channel Beta Subunit 1 |
| SCN3B | Brugada syndrome | Sodium Voltage-Gated Channel Beta Subunit 3 |
| SCN4B | LQT | Sodium Voltage-Gated Channel Beta Subunit 4 |
| SCN5A | LQT, Brugada syndrome | Sodium Voltage-Gated Channel Alpha Subunit 5 |
| SDHA | DCM | Succinate Dehydrogenase Complex Flavoprotein Subunit A |
| SGCD | DCM | Sarcoglycan Delta |
| SHOC2 | HCM | SHOC2 Leucine Rich Repeat Scaffold Protein |
| SLC25A3 | HCM | Solute Carrier Family 25 Member 3 |
| SNTA1 | LQT | Syntrophin Alpha 1 |
| SOS1 | RASopathy | SOS Ras/Rac Guanine Nucleotide Exchange Factor 1 |
| SOS2 | RASopathy | SOS Ras/Rho Guanine Nucleotide Exchange Factor 2 |
| SPRED1 | HCM | Sprouty Related EVH1 Domain Containing 1 |
| TAZ | DCM | Tafazzin, Phospholipid-Lysophospholipid Transacylase |
| TCAP | DCM | Titin-Cap |
| TGFB2 | familial thoracic aortic aneurysms | Transforming Growth Factor Beta 2 |
| TGFB3 | Loeys-Dietz aortic aneurysm syndrome | Transforming Growth Factor Beta 3 |
| TGFBR1 | Loeys-Dietz aortic aneurysm syndrome | Transforming Growth Factor Beta Receptor 1 |
| TGFBR2 | Loeys-Dietz aortic aneurysm syndrome | Transforming Growth Factor Beta Receptor 2 |
| TMEM43 | ARVC | Transmembrane Protein 43 |
| TMPO | DCM, HCM | Thymopoietin, Lamina-Associated Polypeptide 2 Isoforms Beta/Gamma |
| TNNC1 | DCM, HCM | Troponin C1, Slow Skeletal And Cardiac Type |
| TNNI3 | DCM, HCM | Troponin I3, Cardiac Type |
| TNNT2 | DCM, HCM | Troponin T2, Cardiac Type |
| TPM1 | DCM, HCM | Tropomyosin 1 |
| TRDN | DCM | Triadin |
| TRIM63 | HCM (a-recessive) | Tripartite Motif Containing 63 |
| TRPM4 | cardiac conduction disease | Transient Receptor Potential Cation Channel Subfamily M Member 4 |
| TTN | DCM | Titin |
| TTR | HCM, amyloidosis | Transthyretin |
| VCL | DCM | Vinculin |
| Наследственные заболевания нарушения липидного обмена | ||
| LDLR | FH | |
| ABCA1 | LowHDL | |
| ABCG5 | Sitosterolemia | |
| ABCG8 | Sitosterolemia | |
| ANGPTL3 | combined hypolipidemia | |
| APOA1 | LowHDL | |
| APOA5 | combined hyperlipidemia | |
| APOB | FH | |
| APOC2 | combined hyperlipidemia | |
| APOC3 | hypotriglyceridemia | |
| APOE | ADH phenocopy /hot sports | |
| CETP | HighHDL | |
| CREB3L3 | HyperTG | |
| CYP27A1 | FHlike | |
| CYP7A1 | FHlike | |
| GPD1 | HyperTG | |
| GPIHBP1 | combined hyperlipidemia | |
| LCAT | LowHDL | |
| LDLRAP1 | ARH | |
| LIPA | CESD or Wolman syndrome | |
| LIPC | HighHDL | |
| LIPG | HighHDL | |
| LMF1 | HyperTG | |
| LPL | combined hyperlipidemia | |
| LRP6 | HighLDL | |
| MTTP | Abetalipoproteinemia | |
| MYLIP | HighLDL/FH candidate gene | |
| PCSK9 | FH | |
| PNPLA5 | HighLDL/FH candidate gene | |
| SAR1B | Anderson disease | |
| SCARB1 | HighHDL | |
| SORT1 | HighLDL/FH candidate gene | |
| STAP1 | HighLDL/FH candidate gene | |
| GCK | MODY2 | |
| HNF1A | MODY3 | |
