Comprehensive Cardiovascular

ComprehensiveComprehensive Cardiovascular Cardiovascular CardiovascularCardiovascular Diseases Diseases CardiovascularCardiovascular diseases diseases are are a groupa group of of disorders disorders that that may may affect affect the the heart heart and and blood blood vessels. vessels. WhileWhile the the causes causes of of cardiovascularcardiovascular disease disease are are diverse, diverse, proportions proportions are are genetic genetic in inorigin. origin. These These disorders disorders may may occur occur as aspart part of ofa clinicala clinical spectrumspectrum associated associated with with a particulara particular genetic genetic condition condition or or as as an anisolated isolated finding. finding. The The mode mode of of inheritance inheritance is isalso also diverse diverse withwith differing differing clinical clinical variability variability and and expressivity. expressivity.

EmoryEmory Genetics Genetics Laboratory Laboratory offers offers the the Comprehensive Comprehensive Cardiovascular Cardiovascular Panel Panel to toaid aid in inthe the diagnosis diagnosis of ofa avariety variety of of cardiovascularcardiovascular conditions. conditions. This This panel panel is isideal ideal if theif the causative causative gene gene is isunknown unknown and and therefore therefore single-gene single-gene analysis analysis will will notnot be be cost-effective. cost-effective. Some Some genes genes on on this this panel panel are are associated associated with with addit additionalional phenotypes. phenotypes.

GenesGenes Included Included on on Comprehensive Comprehensive Cardiovascular Cardiovascular Panel* Panel* ABCC9ABCC9 CACNA1C CACNA1C DESDES FKTNFKTN KCNE2 KCNE2 LMNA LMNA MYLK2 MYLK2 PTPN11 PTPN11 SKI SKI TMPO TMPO ACTA2ACTA2 CACNB2CACNB2 DMD DMD FLNA FLNA KCNE3 KCNE3 MAP2K1 MAP2K1 MYOZ2 MYOZ2 RAF1 RAF1 SLC2A10 SLC2A10 TNNC1 TNNC1 ACTC1ACTC1 CASQ2CASQ2 DSC2 DSC2 GAA GAA KCNH2 KCNH2 MAP2K2 MAP2K2 MYPN MYPN RANGRF RANGRF SMAD3 SMAD3 TNNI3 TNNI3 ACTN2ACTN2 CAV1CAV1 DSG2 DSG2 GATAD1 GATAD1 KCNJ2 KCNJ2 MED12 MED12 NEBL NEBL RBM20 RBM20 SNTA1 SNTA1 TNNT2 TNNT2 ACVRL1ACVRL1 CAV3 CAV3 DSP DSP GLA GLA KCNJ5 KCNJ5 MYBPC3 MYBPC3 NEXN NEXN RIT1 RIT1 SOS1 SOS1 TPM1 TPM1 AKAP9AKAP9 CBS CBS DTNADTNA GPD1LGPD1L KCNJ8 KCNJ8 MYH6 MYH6 NKX2-5 NKX2-5 RYR2 RYR2 TAZTAZ TTNTTN ANK2ANK2 COL3A1COL3A1 EMD EMD HCN4 HCN4 KCNQ1 KCNQ1 MYH7 MYH7 NRAS NRAS SCN1B SCN1B TCAP TCAP TTR TTR ANKRD1ANKRD1 COL5A1 COL5A1 ENG ENG HRAS HRAS KRAS KRAS MYH11 MYH11 PDLIM3 PDLIM3 SCN3B SCN3B TGFB2 TGFB2 VCLVCL BAG3BAG3 COL5A2COL5A2 FBN1 FBN1 JPH2 JPH2 LAMA4 LAMA4 MYL2 MYL2 PKP2 PKP2 SCN4B SCN4B TGFBR1 TGFBR1 BMPR2BMPR2 CRYAB CRYAB FBN2 FBN2 JUP JUP LAMP2 LAMP2 MYL3 MYL3 PLN PLN SCN5A SCN5A TGFBR2 TGFBR2 BRAFBRAF CSRP3 CSRP3 FHL2 FHL2 KCNE1 KCNE1 LDB3 LDB3 MYLK MYLK PRKAG2 PRKAG2 SGCD SGCD TMEM43 TMEM43 *Please*Please note note that that deletion/duplication deletion/duplication analysis analysis is notis not completed completed for for all allgenes genes in thein the panel. panel. Some Some genes genes on on this this panel panel are are associated associated with with NeuromuscularComprehensiveNeuromuscularComprehensiveadditionaladditional phenotypes. phenotypes. Cardiovascular Cardiovascular Disorders Disorders AllAll genes genes on on the the next next generation generation sequencing sequencing panel panel may may be beordered ordered separately. separately. Genes Genes included included on onpanels panels are are subject subject to tochange. change. ComprehensiveComprehensive Cardiovascular Cardiovascular AboutAbout EGL EGL Genet Geneticsics EGLEGL Genetics Genetics specializes specializes in ingenetic genetic diagnostic diagnostic testing, testing, with with ne nearlyarly 50 50 years years of of clinical clinical experience experience and and board-certified board-certified labor laboratoryatory directorsdirectors and and genetic genetic counselors counselors reporting reporting out out cases. cases. EGL EGL Genet Geneticsics offers offers a combineda combined 1000 1000 molecular molecular genetics, genetics, biochemical biochemical �� with��with �� differing �� differing clinical clinical �� variability variability and and expressivity. expressivity.

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NCBI freely freely available Some available Some genes publicgenes public on ondatabase this database this panel panel ClinVar areClinVar are associated associated(> (>35,000 35,000 with variants with variants addit addit onional on i>onal1700 > phenotypes.1700 phenotypes. genes) genes) and and is isalso also the the only only labo laboratoryratory with with a a freefree online online database database (EmVClass), (EmVClass), featuring featuring a varianta variant classific classificationation search search and and report report request request interface, interface, which which facilitates facilitates rapid rapid interactiveinteractive curation curation and and reporting reporting of of variants. variants. ComprehensiveComprehensive Cardiovascular Cardiovascular GenesGenes Included Included on on Comprehensive Comprehensive Cardiovascular Cardiovascular Panel* Panel* CardiovascularCardiovascularABCC9ABCC9 CACNA1C CACNA1C Diseases DiseasesDESDES FKTNFKTN KCNE2 KCNE2 LMNA LMNA MYLK2 MYLK2 PTPN11 PTPN11 SKI SKI TMPO TMPO CardiovascularCardiovascularACTA2ACTA2 CACNB2diseases CACNB2diseases are are DMDa DMD groupa group of of FLNAdisorders FLNAdisorders that KCNE3 that KCNE3 may may affect MAP2K1affect MAP2K1 the the heart MYOZ2heart MYOZ2 and and blood blood RAF1 RAF1vessels. vessels. SLC2A10 While SLC2A10While the the causes causes TNNC1 TNNC1 of of cardiovascularcardiovascular disease disease are are diverse, diverse, proportions proportions are are genetic genetic in inorigin. origin. These These disorders disorders may may occur occur as aspart part of ofa clinicala clinical spectrumspectrumACTC1ACTC1 associated associatedCASQ2CASQ2 with with a DSC2 particulara DSC2particular GAAgenetic GAAgenetic condition KCNH2condition KCNH2 or MAP2K2 or as MAP2K2 as an anisolated isolated MYPN MYPN finding. finding. RANGRF RANGRF The The mode mode SMAD3of SMAD3of inheritance inheritance TNNI3 is TNNI3 isalso also diverse diverse withwithACTN2 differingACTN2 differing clinical CAV1clinicalCAV1 variability variability DSG2 DSG2 and and expressivity. GATAD1 expressivity. GATAD1 KCNJ2 KCNJ2 MED12 MED12 NEBL NEBL RBM20 RBM20 SNTA1 SNTA1 TNNT2 TNNT2 ACVRL1ACVRL1 CAV3 CAV3 DSP DSP GLA GLA KCNJ5 KCNJ5 MYBPC3 MYBPC3 NEXN NEXN RIT1 RIT1 SOS1 SOS1 TPM1 TPM1 EGLEGL Genetics Genetics offers offers the the Comprehensive Comprehensive Cardiovascular Cardiovascular Panel Panel to toaid aid in inthe the diagnosis diagnosis of ofa avariety variety of ofcardiovascular cardiovascular AKAP9AKAP9 CBS CBS DTNADTNA GPD1LGPD1L KCNJ8 KCNJ8 MYH6 MYH6 NKX2-5 NKX2-5 RYR2 RYR2 TAZTAZ TTNTTN conditions.conditions. This This panel panel is isideal ideal if theif the causative causative gene gene is isunknow unknown andn and therefore therefore single-gene single-gene analysis analysis will will not not be be cost- cost- effective.effective.ANK2ANK2 Some SomeCOL3A1 genesCOL3A1 genes on on this EMDthis EMDpanel panel are are HCN4 associated HCN4 associated KCNQ1 with KCNQ1 with addit addit MYH7ional MYH7ional phenotypes. phenotypes. NRAS NRAS SCN1B SCN1B TCAP TCAP TTR TTR ANKRD1ANKRD1 COL5A1 COL5A1 ENG ENG HRAS HRAS KRAS KRAS MYH11 MYH11 PDLIM3 PDLIM3 SCN3B SCN3B TGFB2 TGFB2 VCLVCL BAG3BAG3 COL5A2COL5A2 FBN1 FBN1 JPH2 JPH2 LAMA4 LAMA4 MYL2 MYL2 PKP2 PKP2 SCN4B SCN4B TGFBR1 TGFBR1 BMPR2BMPR2 CRYAB CRYAB FBN2 FBN2GenesGenes Included Included JUP JUP on on LAMP2Comprehensive LAMP2Comprehensive MYL3 MYL3 Cardiovascular Cardiovascular PLN PLN Panel* SCN5A Panel* SCN5A TGFBR2 TGFBR2 ABCC9BRAFABCC9BRAF CACNA1C CSRP3 CACNA1C CSRP3 FHL2DES FHL2DES KCNE1FKTN KCNE1FKTN KCNE2 LDB3 KCNE2 LDB3 LMNA MYLK LMNA MYLK PRKAG2 MYLK2 PRKAG2 MYLK2 PTPN11 SGCD PTPN11 SGCD TMEM43 TMEM43 SKI SKI TMPO TMPO *Please*PleaseACTA2ACTA2 note note that CACNB2that deletion/duplicationCACNB2 deletion/duplication DMD DMD analysis analysis FLNA FLNAis notis not completed completed KCNE3 KCNE3 for for all MAP2K1allgenes MAP2K1genes in thein the panel. MYOZ2 panel. MYOZ2 Some Some genes genes RAF1 RAF1 on on this this panel SLC2A10panel SLC2A10 are are associated associated TNNC1 with TNNC1 with additionaladditional phenotypes. phenotypes. ACTC1ACTC1 CASQ2CASQ2 DSC2 DSC2 GAA GAA KCNH2 KCNH2 MAP2K2 MAP2K2 MYPN MYPN RANGRF RANGRF SMAD3 SMAD3 TNNI3 TNNI3 AllAll ACTN2genes ACTN2genes on on the the nextCAV1 nextCAV1 generation generation DSG2 DSG2sequencing sequencing GATAD1 GATAD1panel panel may may be KCNJ2 beordered KCNJ2 ordered separately. separately. MED12 MED12 Genes Genes NEBLincluded NEBLincluded on RBM20onpanels RBM20panels are are subject subject SNTA1 SNTA1to tochange. change. TNNT2 TNNT2 ACVRL1ACVRL1 CAV3 CAV3 DSP DSP GLA GLA KCNJ5 KCNJ5 MYBPC3 MYBPC3 NEXN NEXN RIT1 RIT1 SOS1 SOS1 TPM1 TPM1 AboutAboutAKAP9AKAP9 Emory Emory Genet CBS Genet CBS icsics DTNALaboratory DTNALaboratoryGPD1LGPD1L (EGL) (EGL) KCNJ8 KCNJ8 MYH6 MYH6 NKX2-5 NKX2-5 RYR2 RYR2 TAZTAZ TTNTTN �� ANK2 ��ANK2 COL3A1 ��COL3A1 �� EMD�� EMD �� HCN4�� HCN4 �� KCNQ1�� KCNQ1�� MYH7�� MYH7�� NRAS NRAS �� SCN1B �� SCN1B �� TCAP TCAP �� TTR TTR ��ANKRD1ANKRD1 �� COL5A1 �� COL5A1 �� ENG ENG �� HRAS HRAS �� KRAS KRAS �� MYH11 MYH11� �� PDLIM3 PDLIM3 �� SCN3B �� SCN3B �� TGFB2 TGFB2 �� VCLVCL �� BAG3 ��BAG3 COL5A2COL5A2 �� FBN1 FBN1 JPH2 JPH2 LAMA4 LAMA4 MYL2 MYL2 PKP2 PKP2 SCN4B SCN4B TGFBR1 TGFBR1 BMPR2BMPR2 CRYAB CRYAB FBN2 FBN2 JUP JUP LAMP2 LAMP2 MYL3 MYL3 PLN PLN SCN5A SCN5A TGFBR2 TGFBR2 EquallyEquallyBRAFBRAF important important CSRP3 CSRP3 to to improving improving FHL2 FHL2 patient patient KCNE1 care KCNE1 care through through LDB3 LDB3 quality quality gen MYLK gen MYLKeticetic testing testing PRKAG2 PRKAG2 is isthe the contribution SGCDcontribution SGCD TMEM43 EGL TMEM43 EGL makes makes back back to to the the scientificscientific and and medical medical communities. communities. 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AboutAbout Emory Emory Genet Geneticsics Laboratory Laboratory (EGL) (EGL) �� For��For more more information�� information�� about about�� EGL ��EGL �� Genetics�� Genetics �� and�� and�� the �� the �� nearly �� nearly 1000 ��1000 �� tests tests �� we we ��offer: ��offer: �� CALLCALL WEB WEB EquallyEqually important important to to improving improving patient patient care care through through quality quality gen geneticetic testing testing is isthe the contribution contribution EGL EGL makes makes back back to to the the scientific scientific and and medical medical communities. communities. 470.378.2200 470.378.2200 EGL EGL is isone one of of only only a fewa few cl inicalclinical diagnostic diagnostic eglgenetics.com eglgenetics.com laboratories laboratories to to openly openly share share data data with with the the NCBINCBI freely freely available available public public database database ClinVar ClinVar (>7000 (>7000 variants variants on o >500n >500 genes) genes) and and is isalso also the the only only laboratory laboratory with with a freea free onlineonline database database (EmVClass), (EmVClass), featuring featuring a varianta variant classification classification search search and and report report request request interface, interface, which which facilitates facilitates rapid rapid interactiveinteractive curation curation and and reporting reporting of of variants. variants. NeuromuscularComprehensive Cardiovascular Disorders Comprehensive Cardiovascular

Test Code Test Name CPT®** Code(s)

MCAR1 Comprehensive Cardiovascular: Sequencing Panel 81413 (x1), 81439 (x1),

DCAR1 Comprehensive Cardiovascular: Deletion/Duplication Panel 81414 (x1)

81404 (x1), 81405 (x1), MM091 Hypertrophic Cardiomyopathy: Sequencing Panel 81406 (x1), 81407 (x1) MD091 Hypertrophic Cardiomyopathy: Deletion/Duplication Panel 81228 (x1), 81479 (x1) 81404 (x1), 81405 (x1), MM092 Dilated Cardiomyopathy: Sequencing Panel 81406 (x1), 81407 (x1) 81161 (x1), 81228 (x1), MD092 Dilated Cardiomyopathy: Deletion/Duplication Panel 81404 (x1) 81280 (x1), 81403 (x1), MM093 Arrhythmias: Sequencing Panel 81404 (x1) MD093 Arrhythmias: Deletion/Duplication Panel 81228 (x1)

MM094 Long and Short QT Syndrome: Sequencing Panel 81413 (x1)

MD094 Long and Short QT Syndrome: Deletion/Duplication Panel 81414 (x1) MM095 Brugada Syndrome: Sequencing Panel 81404 (x2), 81406 (x1) MD095 Brugada Syndrome: Deletion/Duplication Panel 81228 (x1) Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing MM096 81406 (x1), 81408 (x1) Panel Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/ MD096 81228 (x1), 81479 (x1) Duplication Panel

MM097 Sudden Cardiac Arrest (SCA): Sequencing Panel 81413 (x1), 81414 (x1),

MD097 Sudden Cardiac Arrest (SCA): Deletion/Duplication Panel 81414 (x1) MM098 Pulmonary Hypertension: Sequencing Panel 81405 (x1), 81406 (x1) MD098 Pulmonary Hypertension: Deletion/Duplication Panel 81228 (x1), 81405 (x1) Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and 81410 (x1) MM099 Related Disorders: Sequencing Panel Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and MD099 81411 (x1) Related Disorders: Deletion/Duplication Panel

MM520 Cardiomyopathy: Sequencing Panel 81439 (x1)

MD520 Cardiomyopathy: Deletion/Duplication Panel 81228 (x1), 81479 (x1) **CPT® is a registered trademark of the American Medical Association.

For moreFor information more information about EGLabout Genetics EGL and theand nearly the nearly1100 tests 1000 we testsoffer: we offer: EMAIL CALL WEB [email protected] CALL 404-778-8499 www.geneticslab.emory.edu WEB 470.378.2200 eglgenetics.com