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Генетическая лаборатория
Анализы

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

25000 

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

 

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