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Cardiology Genetic Testing Services

 Gene panel for Brugada Syndromes now includes 7 genes and Long QT Syndrome now includes 12 genes 

Condition Gene Panel Further Information
Hypertrophic Cardiomyopathy


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ACTC, CAV3, GLA, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR

Physician Guide

Patient Guide

 Test Information sheet

 Medical necessity letter template

Dilated Cardiomyopathy 


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ACTC, DES, LAMP2, LMNA, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, PLN, SGCD, TAZ, TNNI3, TNNT2, TPM1, TTR, ZASP Physician Guide

 Patient Guide

 Test Information sheet

 Medical necessity letter template

Long QT Syndrome

Updated panel, including LQT11 and LQT12


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1. NextGeneration Sequencing Panel for LQTS: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1

2. Microarray-based deletion/duplication testing for LQTS: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1
Physician Guide

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 Test Information sheet

 Medical necessity letter template
 

Short QT Syndrome 



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KCNQ1, KCNJ2, KCNH2  Test Information sheet

 Medical necessity letter template

Brugada Syndrome 

Updated panel, including KCNE3 and SCN3B



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CACNA1C, CACNB2, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
 
Physician Guide

Patient Guide

 Test Information sheet

 Medical necessity letter template
 
Arrhythmogenic Right Ventricular Cardiomyopathy


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DSC2, DSG2, DSP, JUP, PKP2, RYR2,TMEM43 Physician Guide

Patient Guide

 Test Information sheet

 Medical necessity letter template
 
Catecholaminergic Polymorphic Ventricular Tachycardia


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CASQ2, RYR2, KCNJ2 Physician Guide

Patient Guide

 Test Information sheet

 Medical necessity letter template
Marfan Syndrome 


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 FBN1, TGFBR1, TGFBR2  Test Information sheet
Noonan Syndrome 


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BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SOS1, SHOCK2 (S2G mutation only)  Test Information sheet
Supravalvular Aortic Stenosis


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ELN  Test Information sheet
Alagille Syndrome (Test #1004)


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JAG1  Test Information sheet
Sudden Cardiac Arrest (SCA) 


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ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A  Test Information sheet
Carrier Testing


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    Test Information sheet
Congenital Heart Disorder due to Micro Del/Dup Syndrome


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Whole genome array CGH Test Information sheet