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 | Test Code | Description | New/Removed Genes |
|---|---|---|---|
| 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 | Test Code | Description | New/Removed Genes |
|---|---|---|---|
| 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 | Test Code | Description | New/Removed Genes |
|---|---|---|---|
| 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
