New and Improved Cardio Menu: Find Answers for More Patients with Inherited Cardiovascular Disease and Lipid Disorders

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 Name: FCSNext Test Code: 8920 Description: 5 genes associated with familial chylomicronemia syndrome New/Removed Genes: APOA5, APOC2, GPIHBP1, LMF1, LPL
Test Name: Sitosterolemia Test Code: 8930 Description: 2 genes associated with sitosterolemia New/Removed Genes: ABCG5, ABCG8
Test Name: LongQTNext Test Code: 8890 Description: 17 genes associated with long QT, Brugada and short QT syndromes New/Removed Genes: AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN
Updated Tests*
Test Name: TAADNext Test Code: 8789 Description: Added 13 genes associated with thoracic aortic aneurysms/dissections, Marfan syndrome and related disorders New/Removed Genes: Added: BGN, CHST14, COL1A1, COL1A2, EFEMP2, FKBP14, FOXE3, LOX, MAT2A, MFAP5, PRDM5, TNXB, ZNF469
Test Name: NoonanNext Test Code: 8402 Description: Added 14 genes associated with RASopathies New/Removed Genes: Added: BRAF, CBL, HRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, RASA1, RIT1, SHOC2, SOS2, SPRED1
Test Name: RhythmNext Test Code: 8900 Description: Added 7 genes associated with inherited arrhythmias; Removed 1 gene with limited evidence New/Removed Genes: Added: CALM2, CALM3, DES, KCNJ5, PLN, SCN10A, TECRL
Removed: TGFB3
Test Name: CPVTNext Test Code: 8902 Description: Removed 2 genes with limited evidence New/Removed Genes: Removed: ANK2, KCNJ2
Test Name: HCMNext Test Code: 8936 Description: Added 5 genes associated with hypertrophic cardiomyopathy; Removed 2 genes with limited evidence New/Removed Genes: Added: ALPK3, FHL1, FLNC, RIT1, SOS1
Removed: FXN, MYOZ2
Test Name: DCMNext Test Code: 8884 Description: Added 5 genes associated with dilated cardiomyopathy; Removed 4 genes with limited evidence New/Removed Genes: Added: ALMS1, DOLK, DSP, FKRP, FLNC
Removed: EYA4, FKTN, TMPO, TXNRD2
Test Name: ARVCNext Test Code: 8904 Description: Added 3 genes associated with arrhythmogenic right ventricular cardiomyopathy; Removed 1 gene with limited evidence New/Removed Genes: Added: DES, PLN, SCN5A
Removed: TGFB3
Test Name: CMNext Test Code: 8887 Description: Added 9 genes associated with cardiomyopathy; Removed 8 genes with limited evidence New/Removed Genes: Added: ALMS1, ALPK3, DOLK, FHL1, FKRP, FLNC, HCN4, RIT1, SOS1
Removed: EYA4, FKTN, FXN, GATAD1, MYOZ2, TGFB3, TMPO, TXNRD2
Test Name: HHTNext Test Code: 8672 Description: Added 1 gene associated with hereditary hemorrhagic telangiectasia New/Removed Genes: Added: EPHB4
Test Name: CardioNext Test Code: 8911 Description: Added 12 genes associated with hereditary cardiomyopathies and arrhythmias; Removed 5 genes with limited evidence New/Removed Genes: Added: ALMS1, ALPK3, CALM2, CALM3, DOLK, FHL1, FKRP, FLNC, RIT1, SCN10A, SOS1, TECRL
Removed: FXN, GATA4, JAG1, TBX1, TMPO
Test Name: CustomNext-Cardio Test Code: 9520 Description: Added 63 genes associated with hereditary cardiovascular or lipid disorders; Removed 2 genes with limited evidence New/Removed Genes: All genes included on any cardio or lipid panel are now available on CustomNext-Cardio
Removed: FXN, TMPO
Retired Tests
Test Name: LVNCNext Test Code: 8906 Description: LVNCNext has been removed from our menu. Related genes available on CMNext or CustomNext-Cardio New/Removed Genes: N/A
Test Name: FBN1 sequencing and del/dup Test Code: 8781 Description: FBN1 is still available with FBN1 reflex to TAADNext or CustomNext-Cardio New/Removed Genes: N/A
Test Name: COL3A1 sequencing and del/dup Test Code: 8790 Description: COL3A1 is still available through CustomNext-Cardio New/Removed Genes: N/A
Test Name: COL3A1 reflex to TAADNext Test Code: 8791 Description: Testing still available with TAADNext New/Removed Genes: N/A
Test Name: HCMFirst Test Code: 8935 Description: HCMFirst has been retired but these genes are available for testing with HCMNext Reflex or CustomNext-Cardio New/Removed Genes: N/A
Test Name: RhythmFirst Test Code: 8888 Description: RhythmFirst has been retired but these genes are available for testing with LongQTNext or CustomNext–Cardio New/Removed Genes: N/A
Test Name: RhythmNext reflex Test Code: 8901 Description: Testing still available with RhythmNext New/Removed Genes: N/A

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

The turnaround time is 2-3 weeks for all tests



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The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.