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Genetic Testing for Cardiovascular Conditions

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Genetic Testing for Cardiovascular Conditions Cardiology panels available at LifeLabs Genetics include: Condition Selected Cardiology Panels Condition Selected Cardiology Panels • Hereditary Arrhythmia Pulmonary • Pulmonary Disease • Long and Short QT Syndrome Diseases • Pulmonary Hypertension Arrhythmias • Brugada Syndrome • Catecholaminergic Polymorphic • Familial Thoracic Aortic Aneurysm Ventricular Tachycardia Aortopathies and • Ehlers Danlos Syndrome Connective • Marfan Syndrome Tissue Disorders • Arrhythmogenic Right Ventricular • Loeys-Dietz Syndrome Cardiomyopathy Cardiomyopathies • Hypertrophic Cardiomyopathy • Familial hypercholesterolemia Other Cardiology- • Dilated Cardiomyopathy • Congenital Heart Defects related Panels • Noonan and related RASopathies • Hereditary Hemorrhagic Telangiectasia (1) Additional cardiology or cardiology-associated single genes and panels may be available; (2) Please visit www.LifeLabsGenetics.com for updated gene content of each panel; (3) Mitochondrial DNA testing is available as an add-on to any panel ($950 CAD); (4) Many of the above panels can be combined to create a single custom and comprehensive Fixed Panel. All panels can be performed by one of three methodologies Fixed Panels Expanded Panel Progressive Panels ✓ Panels with more focused gene ✓ Largest panel available, covering ✓ WGS-based, meaning inclusion of content means less likelihood of a >6,700 genes non-exonic regions VUS ✓ No need to choose a panel, as all ✓ Best way to call CNVs and other All✓ Curated panels content can means be ordered less work according>6,700 genesto the are alwayspreferred sequenced methodologystructural variants needed to be done by the ordering ✓ 1 step process, meaning no need to ✓ Includes mitochondrial analyses, HCP reflex to larger data when applicable ✓ All sequencing includes repeat ✓ Raw data available ✓ Reflex to WGS available expansion, when applicable Prices start at: Prices start at: Prices start at: $1,450 CAD (Sequencing) $1,350 CAD (Sequencing) $3,850 CAD (Seq+CNV) $1,950 CAD (Seq+CNV) $1,900 CAD (Seq+CNV) +$1,000 (Reflex to WGS) Turn-around time Single Gene: 4 weeks Panels: 4-6 weeks (TAT) Familial Mutation: 2-4 weeks Price: $300 for point mutations, $450 for Dosage (MLPA or qPCR) Visit www.lifelabsgenetics.com to learn more about custom diagnostic panels, whole exome and whole genome sequencing. Contact us [email protected] | 1-84-GENEHELP (1-844-363-4357) Genetic Testing for Cardiovascular Conditions Cardiology gene list per condition: Condition Genes AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, Hereditary Arrhythmia KCNE3, KCNH2, KCNJ2, KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TGFB3, TMEM43 Long and Short QT AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, Syndromes SNTA1, TRDN Brugada Syndrome CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, SLMAP Catecholaminergic polymorphic ventricular RYR2, CASQ2, KCNJ2 tachycardia Arrhythmogenic Right Ventricular CDH2, CTNNA3, DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN Cardiomyopathy ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CRYAB, CSRP3, DES, FHL2, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, Hypertrophic MYL2, MYL3, MYLK2, MYPN, NEXN, PDLIM3, PLN, PRKAG2, SLC25A4, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, Cardiomyopathy TTN, TTR, VCL ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FKTN, Dilated Cardiomyopathy GATA4, GATAD1, ILK, LAMA4, LAMP2, LDB3, LMNA, MURC, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, PRDM16, RAF1, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL Noonan and related BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, RASopathies SPRED1 ABCA3, ACVRL1, AP3B1, ASCL1, BDNF, BLOC1S3, BLOC1S6, BMPR2, CCDC39, CCDC40, CFTR, CSF2RA, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP2, ELMOD2, ELN, ENG, FBLN5, Pulmonary Disease FBN1, FLCN, FOXF1, GDNF, HPS1, HPS3, HPS4, HPS5, HPS6, LTBP4, NKX2-1, NME8, NOP10, PARN, PHOX2B, RET, RSPH1, RSPH4A, RSPH9, RTEL1, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SMAD9, STAT3, TERC, TERT, TINF2, TSC1, TSC2 Pulmonary Hypertension ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD9 Familial Thoracic Aortic ACTA2, BGN, CBS, LOX, MAT2A, MFAP5, MYH11, MYLK Aneurysm Ehlers Danlos Syndrome ADAMTS2, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, and related disorders EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, GORAB, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TNXB, ZNF469 Marfan, Loeys-Dietz, and COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, NOTCH1, SKI, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 related disorders Familial APOB, GHR, LDLR, PCSK9 hypercholesterolemia Congenital Heart CFC1, CITED2, CRELD1, FOXH1, GATA4, GATA6, GDF1, NKX2-5, NOTCH1, TBX1, TBX20, ZFPM2 Defects Hereditary Hemorrhagic ACVRL1, ENG, GDF2, SMAD4 Telangiectasia The gene content of our panels is continuously changing. Please visit www.lifelabsgenetics.com for the most up-to-date information. Visit www.lifelabsgenetics.com to learn more about custom diagnostic panels, whole exome and whole genome sequencing. Contact us [email protected] | 1-84-GENEHELP (1-844-363-4357).
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  • Isoform-Specific Regulation of HCN4 Channels by a Family of Endoplasmic Reticulum Proteins

    Isoform-Specific Regulation of HCN4 Channels by a Family of Endoplasmic Reticulum Proteins

    Isoform-specific regulation of HCN4 channels by a family of endoplasmic reticulum proteins Colin H. Petersa, Mallory E. Myersa, Julie Juchnoa, Charlie Haimbaugha, Hicham Bichraouia, Yanmei Dub, John R. Bankstona, Lori A. Walkerb, and Catherine Proenzaa,b,1 aDepartment of Physiology and Biophysics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045; and bDepartment of Medicine, Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045 Edited by Bruce P. Bean, Harvard Medical School, Boston, MA, and approved June 5, 2020 (received for review April 13, 2020) Ion channels in excitable cells function in macromolecular com- (14). When HCN4 is expressed in HEK293 cells, it exhibits the plexes in which auxiliary proteins modulate the biophysical properties canonical depolarizing shift in voltage dependence in response to of the pore-forming subunits. Hyperpolarization-activated, cyclic cAMP. However, we found that when HCN4 is expressed in nucleotide-sensitive HCN4 channels are critical determinants of mem- Chinese hamster ovary (CHO) cells, channel activation is con- brane excitability in cells throughout the body, including thalamocort- stitutively shifted to more depolarized membrane potentials and ical neurons and cardiac pacemaker cells. We previously showed that is no longer affected by cAMP. Moreover, the constitutive acti- the properties of HCN4 channels differ dramatically in different cell vation of HCN4 in CHO cells is specific to the HCN4 isoform; types, possibly due to the endogenous expression of auxiliary pro- HCN2 retains a large cAMP-dependent shift in voltage de- teins. Here, we report the discovery of a family of endoplasmic re- pendence (14). We hypothesized that this “CHO effect” is due to ticulum (ER) transmembrane proteins that associate with and expression of an endogenous, isoform-specific modulator of modulate HCN4.