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New and Improved Cardio Menu For Genetic Testing
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New and Improved Cardio Menu For Genetic Testing

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David Pfeifer, Sr. Product Marketing Manager
February 20, 2019
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Ambry is dedicated to finding answers for patients. We have made significant updates to our cardiovascular test menu to increase the identification of patients with heritable cardiovascular and lipid disorders, so that you can provide a clear diagnosis and guide personalized medical management for more families. 

New Tests*

Test CodeDescriptionNew/Removed Genes
Test Code: 8920Description: 5 genes associated with familial chylomicronemia syndromeNew/Removed Genes: APOA5, APOC2, GPIHBP1, LMF1, LPL
Test Code: 8930Description: 2 genes associated with sitosterolemiaNew/Removed Genes: ABCG5, ABCG8
Test Code: 8890Description: 17 genes associated with long QT, Brugada and short QT syndromesNew/Removed Genes: AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN

Updated Tests*

Test CodeDescriptionNew/Removed Genes
Test Code: 8789Description: Added 13 genes associated with thoracic aortic aneurysms/dissections, Marfan syndrome and related disordersNew/Removed Genes: Added: BGN, CHST14, COL1A1, COL1A2, EFEMP2, FKBP14, FOXE3, LOX, MAT2A, MFAP5, PRDM5, TNXB, ZNF469
Test Code: 8402Description: Added 14 genes associated with RASopathiesNew/Removed Genes: Added: BRAF, CBL, HRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, RASA1, RIT1, SHOC2, SOS2, SPRED1
Test Code: 8900Description: Added 7 genes associated with inherited arrhythmias; Removed 1 gene with limited evidenceNew/Removed Genes: Added: CALM2, CALM3, DES, KCNJ5, PLN, SCN10A, TECRL
Removed: TGFB3
Test Code: 8902Description: Removed 2 genes with limited evidenceNew/Removed Genes: Removed: ANK2, KCNJ2
Test Code: 8936Description: Added 5 genes associated with hypertrophic cardiomyopathy; Removed 2 genes with limited evidenceNew/Removed Genes: Added: ALPK3, FHL1, FLNC, RIT1, SOS1
Removed: FXN, MYOZ2
Test Code: 8884Description: Added 5 genes associated with dilated cardiomyopathy; Removed 4 genes with limited evidenceNew/Removed Genes: Added: ALMS1, DOLK, DSP, FKRP, FLNC
Removed: EYA4, FKTN, TMPO, TXNRD2
Test Code: 8904Description: Added 3 genes associated with arrhythmogenic right ventricular cardiomyopathy; Removed 1 gene with limited evidenceNew/Removed Genes: Added: DES, PLN, SCN5A
Removed: TGFB3
Test Code: 8887Description: Added 9 genes associated with cardiomyopathy; Removed 8 genes with limited evidenceNew/Removed Genes: Added: ALMS1, ALPK3, DOLK, FHL1, FKRP, FLNC, HCN4, RIT1, SOS1
Removed: EYA4, FKTN, FXN, GATAD1, MYOZ2, TGFB3, TMPO, TXNRD2
Test Code: 8672Description: Added 1 gene associated with hereditary hemorrhagic telangiectasiaNew/Removed Genes: Added: EPHB4
Test Code: 8911Description: Added 12 genes associated with hereditary cardiomyopathies and arrhythmias; Removed 5 genes with limited evidenceNew/Removed Genes: Added: ALMS1, ALPK3, CALM2, CALM3, DOLK, FHL1, FKRP, FLNC, RIT1, SCN10A, SOS1, TECRL
Removed: FXN, GATA4, JAG1, TBX1, TMPO
Test Code: 9520Description: Added 63 genes associated with hereditary cardiovascular or lipid disorders; Removed 2 genes with limited evidenceNew/Removed Genes: All genes included on any cardio or lipid panel are now available on CustomNext-Cardio
Removed: FXN, TMPO

Retired Tests

Test CodeDescriptionNew/Removed Genes
Test Code: 8906Description: LVNCNext has been removed from our menu. Related genes available on CMNext or CustomNext-CardioNew/Removed Genes: N/A
Test Code: 8781Description: FBN1 is still available with FBN1 reflex to TAADNext or CustomNext-CardioNew/Removed Genes: N/A
Test Code: 8790Description: COL3A1 is still available through CustomNext-CardioNew/Removed Genes: N/A
Test Code: 8791Description: Testing still available with TAADNextNew/Removed Genes: N/A
Test Code: 8935Description: HCMFirst has been retired but these genes are available for testing with HCMNext Reflex or CustomNext-CardioNew/Removed Genes: N/A
Test Code: 8888Description: RhythmFirst has been retired but these genes are available for testing with LongQTNext or CustomNext–CardioNew/Removed Genes: N/A
Test Code: 8901Description: Testing still available with RhythmNextNew/Removed Genes: N/A

*There are no changes to FHNext (8680) or TTR (1560)

The turnaround time is 2-3 weeks for all tests