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Comprehensive Cardiology Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ABCC9 81479,81479
ABCG5 81479,81479
ABCG8 81479,81479
ACTA1 81479,81479
ACTA2 81405,81479
ACTC1 81405,81479
ACTN2 81479,81479
AKAP9 81479,81479
ALMS1 81479,81479
ALPK3 81479,81479
ANK2 81479,81479
ANKRD1 81405,81479
APOA4 81479,81479
APOA5 81479,81479
APOC2 81479,81479
APOE 81479,81479
BAG3 81479,81479
BRAF 81406,81479
CACNA1C 81479,81479
CACNA2D1 81479,81479
CACNB2 81406,81479
CALM1 81479,81479
CALM2 81479,81479
CALM3 81479,81479
CALR3 81479,81479
CASQ2 81405,81479
CAV3 81404,81479
CAVIN4 81479,81479
CBL 81479,81479
CBS 81406,81479
CDH2 81479,81479
CETP 81479,81479
COL3A1 81479,81479
COL5A2 81479,81479
COX15 81405,81479
CREB3L3 81479,81479
CRELD1 81479,81479
CRYAB 81479,81479
CSRP3 81479,81479
CTNNA3 81479,81479
DES 81405,81479
DMD 81408,81161
DNAJC19 81479,81479
DOLK 81479,81479
DPP6 81479,81479
DSC2 81406,81479
DSG2 81406,81479
DSP 81406,81479
DTNA 81479,81479
EFEMP2 81479,81479
ELAC2 81479,81479
ELN 81479,81479
EMD 81405,81404
EYA4 81479,81479
FBN1 81408,81479
FBN2 81479,81479
FHL1 81404,81479
FHL2 81479,81479
FHOD3 81479,81479
FKRP 81404,81479
FKTN 81405,81479
FLNC 81479,81479
GAA 81406,81479
GATAD1 81479,81479
GCKR 81479,81479
GJA5 81479,81479
GLA 81405,81479
GPD1L 81479,81479
GPIHBP1 81479,81479
HADHA 81406,81479
HCN4 81479,81479
HFE 81479,81479
HRAS 81404,81479
HSPB8 81479,81479
ILK 81479,81479
JAG1 81407,81406
JPH2 81479,81479
JUP 81406,81479
KCNA5 81479,81479
KCND3 81479,81479
KCNE1 81479,81479
KCNE2 81479,81479
KCNE3 81479,81479
KCNE5 81479,81479
KCNH2 81406,81479
KCNJ2 81403,81479
KCNJ5 81479,81479
KCNJ8 81479,81479
KCNK3 81479,81479
KCNQ1 81406,81479
KLF10 81479,81479
KRAS 81405,81479
LAMA2 81408,81479
LAMA4 81479,81479
LAMP2 81405,81479
LDB3 81406,81479
LDLR 81406,81405
LDLRAP1 81479,81479
LMF1 81479,81479
LMNA 81406,81479
LMOD2 81479,81479
LPL 81479,81479
LTBP2 81479,81479
LZTR1 81479,81479
MAP2K1 81406,81479
MAP2K2 81406,81479
MIB1 81479,81479
MRAS 81479,81479
MTO1 81479,81479
MYBPC3 81407,81479
MYH11 81408,81479
MYH6 81407,81479
MYH7 81407,81479
MYL2 81405,81479
MYL3 81405,81479
MYL4 81479,81479
MYLK 81479,81479
MYLK2 81479,81479
MYO6 81479,81479
MYOZ2 81479,81479
MYPN 81479,81479
NEBL 81479,81479
NEXN 81479,81479
NF1 81408,81479
NKX2-5 81479,81479
NODAL 81479,81479
NOTCH1 81407,81479
NPPA 81479,81479
NRAP 81479,81479
NRAS 81479,81479
NUP155 81479,81479
PDLIM3 81479,81479
PKP2 81406,81479
PLN 81403,81479
PPCS 81479,81479
PPP1CB 81479,81479
PRDM16 81479,81479
PRKAG2 81406,81479
PRKAR1A 81479,81479
PTPN11 81406,81479
RAF1 81406,81479
RANGRF 81479,81479
RASA2 81479,81479
RBM20 81479,81479
RIT1 81479,81479
RRAS 81479,81479
RYR1 81408,81479
RYR2 81408,81479
SALL4 81479,81479
SCN10A 81479,81479
SCN1B 81404,81479
SCN2B 81479,81479
SCN3B 81479,81479
SCN4B 81479,81479
SCN5A 81407,81479
SCO2 81404,81479
SELENON 81479,81479
SGCD 81405,81479
SGCG 81405,81404
SHOC2 81405,81479
SLC25A4 81404,81479
SLC2A10 81479,81479
SLC4A3 81479,81479
SLMAP 81479,81479
SMAD3 81479,81479
SMAD4 81406,81405
SNTA1 81479,81479
SOS1 81406,81479
SOS2 81479,81479
SREBF2 81479,81479
TAFAZZIN 81406,81479
TANGO2 81479,81479
TBX20 81479,81479
TBX3 81479,81479
TBX5 81405,81479
TCAP 81479,81479
TECRL 81479,81479
TGFB2 81479,81479
TGFB3 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
TMEM43 81406,81479
TMPO 81479,81479
TNNC1 81405,81479
TNNI3 81405,81479
TNNI3K 81479,81479
TNNT2 81406,81479
TPM1 81405,81479
TRDN 81479,81479
TRIM63 81479,81479
TRPM4 81479,81479
TTN 81479,81479
TTR 81404,81479
TXNRD2 81479,81479
VCL 81479,81479
ZBTB17 81479,81479
ZHX3 81479,81479
ZIC3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
2663Genes x (198)81413 81161(x1), 81403(x2), 81404(x10), 81405(x24), 81406(x26), 81407(x6), 81408(x7), 81479(x320) $1290 Order Options and Pricing

Pricing Comments

CPT codes 81413 and 81414 can be used if at least 10 genes (including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR1, and SCN5A) are analyzed. We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Heart disease is a phenotypically and genetically heterogeneous group of diseases which impair the function and structure of the heart and are the leading cause of death worldwide (Roger et al. 2012). Genetic factors play a role in conferring risk for heart disease. The contribution of inheritance varies by disease and by other factors such as subtype of disease and onset age. Heart disease encompasses a broad range of disorders, such as Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Brugada syndrome, Long QT syndrome, Short QT syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia and Left Ventricular Non-Compaction Cardiomyopathy.

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) primarily affects the right ventricle. It is characterized by myocardial atrophy, fibrofatty replacement of the ventricular myocardium and inflammatory infiltrates (McNally et al. 2014).

Brugada syndrome (BrS) is a potentially life-threating arrhythmia disorder without structural abnormalities and electrocardiographically characterized by a distinct ST-segment elevation in the right precordial leads (Antzelevitch et al. 2005).

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by life-threatening electrical instability induced by physical or emotional stress without any structural cardiac abnormalities (Napolitano et al. 2014).

Long QT syndrome (LQTS) is characterized by a prolonged cardiac repolarization that may trigger ventricular arrhythmias (torsade de pointes), recurrent syncopes, seizure, or sudden cardiac death (Alders and Christiaans 2015).

Short QT syndrome (SQTS) is associated with marked shortening of QT intervals and sudden cardiac death in individuals with structurally normal hearts (Miyamoto A. et al. 2012).

Left Ventricular Noncompaction (LVNC) Cardiomyopathy is believed to be caused by an arrest in cardiac development during embryogenesis, resulting in a spongy, noncompacted appearance. The numerous trabeculations are most pronounced in the left ventricle (Oechslin et al. 2011; Hoedemaekers et al. 2010).

Dilated Cardiomyopathy (DCM) is a heterogeneous disease of the cardiac muscle characterized by dilatation of the left, right, or both ventricles, systolic dysfunction, and diminished myocardial contractility (Hershberger et al. 2013).

Hypertrophic Cardiomyopathy (HCM) is a primary disease of the cardiac muscle characterized by idiopathic hypertrophy of the left ventricle, although hypertrophy of the right ventricle may also occur. HCM is distinguished by extensive clinical variability between individuals, even within the same family (Cirino et al. 2014)

Genetics

Inherited heart diseases are a group of genetically heterogeneous disorders with a relatively high population frequency, and substantial genetic component. Familial inheritance is common and can be autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL). The major of cardiac-related genes are associated with autosomal dominant disorders. The ABCG5, ABCG8, ALMS1, APOC2, CASQ2, CBS, COX15, DNAJC19, DOLK, EFEMP2, FKRP, FKTN, GAA, GATAD1, GPIHBP1, HADHA, HFE, LAMA2, LDLRAP1, LMF1, LTBP2, SCO2, SGCG, SLC2A10, TRDN and APOE* are associated with autosomal recessive cardiac-related disorders. The DSC2, DSP, ACTA1, JUP, KCNE1, KCNQ1, LMNA, LPL, NPPA, RYR1, SCN5A, SELENON (previously SEPN1), SLC25A4, TNNI3, TTN and APOA4* genes are associated with autosomal dominant and recessive cardiac-related disorders. The FHL1, GLA, LAMP2, DMD, EMD, TAFAZZIN and ZIC3 genes are associated with X-linked recessive cardiac-related disorders, except for LAMP2, which is involved in X-linked dominant cardiac-related disorders (OMIM; Human Gene Mutation Database, *limited cases). See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

The sensitivity of this panel varies based on the type of disease. This test is predicted to detect causative variants in ~60% of Hypertrophic Cardiomyopathy patients (Morita et al. 2008; Hershberger et al. 2009), up to 20-30% of adults with Left Ventricular Noncompaction (Ichida et al 2001; Vatta et al. 2003; Hermida-Prieto et al. 2004; Klaassen et al. 2008; Hoedemaekers et al. 2010), 30-40% of patients with familial Dilated Cardiomyopathy (Hershberger and Morales 2013), ~73% of patients with autosomal dominant or sporadic Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (McNally et al. 2014; Bhuiyan et al. 2009), 52%-60% of Catecholaminergic Polymorphic Ventricular Tachycardia cases (Napolitano et al. 2014), ~ 80% of patients with Long QT syndrome (Splawski et al. 2000; Taggart et al 2007; Ackerman et al. 2011); 20%-35% of Brugada syndrome cases (Kapplinger et al 2010; Crotti et al. 2012); and 15%-20% of Short QT syndrome cases (Schimpf et al. 2008).

Gross deletions or duplications not detectable by Sanger sequencing have been reported in CACNA2D1, CACNB2, CAV3, DES, DSP, GJA5, GPD1L, KCNA5, KCNH2, KCNJ2, KCNQ1, NKX2-5, PKP2, RYR2 and SCN5A as individual cases (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.9% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with symptoms and medical history suggestive of inherited heart disease.

Genes

Official Gene Symbol OMIM ID
ABCC9 601439
ABCG5 605459
ABCG8 605460
ACTA1 102610
ACTA2 102620
ACTC1 102540
ACTN2 102573
AKAP9 604001
ALMS1 606844
ALPK3 617608
ANK2 106410
ANKRD1 609599
APOA4 107690
APOA5 606368
APOC2 608083
APOE 107741
BAG3 603883
BRAF 164757
CACNA1C 114205
CACNA2D1 114204
CACNB2 600003
CALM1 114180
CALM2 114182
CALM3 114183
CALR3 611414
CASQ2 114251
CAV3 601253
CAVIN4 0
CBL 165360
CBS 613381
CDH2 114020
CETP 118470
COL3A1 120180
COL5A2 120190
COX15 603646
CREB3L3 611998
CRELD1 607170
CRYAB 123590
CSRP3 600824
CTNNA3 607667
DES 125660
DMD 300377
DNAJC19 608977
DOLK 610746
DPP6 126141
DSC2 125645
DSG2 125671
DSP 125647
DTNA 601239
EFEMP2 604633
ELAC2 605367
ELN 130160
EMD 300384
EYA4 603550
FBN1 134797
FBN2 612570
FHL1 300163
FHL2 602633
FHOD3 609691
FKRP 606596
FKTN 607440
FLNC 102565
GAA 606800
GATAD1 614518
GCKR 600842
GJA5 121013
GLA 300644
GPD1L 611778
GPIHBP1 612757
HADHA 600890
HCN4 605206
HFE 613609
HRAS 190020
HSPB8 608014
ILK 602366
JAG1 601920
JPH2 605267
JUP 173325
KCNA5 176267
KCND3 605411
KCNE1 176261
KCNE2 603796
KCNE3 604433
KCNE5 300328
KCNH2 152427
KCNJ2 600681
KCNJ5 600734
KCNJ8 600935
KCNK3 603220
KCNQ1 607542
KLF10 601878
KRAS 190070
LAMA2 156225
LAMA4 600133
LAMP2 309060
LDB3 605906
LDLR 606945
LDLRAP1 605747
LMF1 611761
LMNA 150330
LMOD2 608006
LPL 609708
LTBP2 602091
LZTR1 600574
MAP2K1 176872
MAP2K2 601263
MIB1 608677
MRAS 608435
MTO1 614667
MYBPC3 600958
MYH11 160745
MYH6 160710
MYH7 160760
MYL2 160781
MYL3 160790
MYL4 160770
MYLK 600922
MYLK2 606566
MYO6 600970
MYOZ2 605602
MYPN 608517
NEBL 605491
NEXN 613121
NF1 613113
NKX2-5 600584
NODAL 601265
NOTCH1 190198
NPPA 108780
NRAP 602873
NRAS 164790
NUP155 606694
PDLIM3 605889
PKP2 602861
PLN 172405
PPCS 609853
PPP1CB 600590
PRDM16 605557
PRKAG2 602743
PRKAR1A 188830
PTPN11 176876
RAF1 164760
RANGRF 607954
RASA2 601589
RBM20 613171
RIT1 609591
RRAS 165090
RYR1 180901
RYR2 180902
SALL4 607343
SCN10A 604427
SCN1B 600235
SCN2B 601327
SCN3B 608214
SCN4B 608256
SCN5A 600163
SCO2 604272
SELENON 606210
SGCD 601411
SGCG 608896
SHOC2 602775
SLC25A4 103220
SLC2A10 606145
SLC4A3 106195
SLMAP 602701
SMAD3 603109
SMAD4 600993
SNTA1 601017
SOS1 182530
SOS2 601247
SREBF2 600481
TAFAZZIN 300394
TANGO2 616830
TBX20 606061
TBX3 601621
TBX5 601620
TCAP 604488
TECRL 0
TGFB2 190220
TGFB3 190230
TGFBR1 190181
TGFBR2 190182
TMEM43 612048
TMPO 188380
TNNC1 191040
TNNI3 191044
TNNI3K 613932
TNNT2 191045
TPM1 191010
TRDN 603283
TRIM63 606131
TRPM4 606936
TTN 188840
TTR 176300
TXNRD2 606448
VCL 193065
ZBTB17 604084
ZHX3 609598
ZIC3 300265
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 2 XL 302060
3-Methylglutaconic Aciduria Type V AR 610198
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome AD 618929
Alpha-B Crystallinopathy AD 608810
Alstrom Syndrome AR 203800
Amyloidogenic Transthyretin Amyloidosis AD 105210
Andersen Tawil Syndrome AD 170390
Aortic Aneurysm, Familial Thoracic 4 AD 132900
Aortic Aneurysm, Familial Thoracic 6 AD 611788
Aortic Aneurysm, Familial Thoracic 7 AD 613780
Aortic Valve Disorder AD 109730
Apolipoprotein C2 Deficiency AR 207750
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 AD 107970
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 AD 610193
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 AD,AR 610476
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 AD 611528
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 AD 600996
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 AD 604400
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 AD 607450
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 AD 609040
Arrhythmogenic right ventricular dysplasia, familial, 13 AD 615616
Arrhythmogenic right ventricular dysplasia, familial, 14 AD 618920
Arterial Tortuosity Syndrome AR 208050
Atrial fibrillation 15 AR 615770
Atrial Fibrillation, Familial, 10 AD 614022
Atrial Fibrillation, Familial, 11 AD 614049
Atrial Fibrillation, Familial, 12 AD 614050
Atrial Fibrillation, Familial, 13 AD 615377
Atrial Fibrillation, Familial, 14 AD 615378
Atrial Fibrillation, Familial, 18 AD 617280
Atrial Fibrillation, Familial, 3 AD 607554
Atrial Fibrillation, Familial, 4 AD 611493
Atrial Fibrillation, Familial, 6 AD 612201
Atrial Fibrillation, Familial, 7 AD 612240
Atrial Fibrillation, Familial, 9 AD 613980
Atrial Myxoma, Familial AD 255960
Atrial Septal Defect 3 AD 614089
Atrial Septal Defect 4 611363
Atrial Septal Defect 5 AD 612794
Atrial Septal Defect With Atrioventricular Conduction Defects AD 108900
Atrioventricular Septal Defect 2 AD 606217
Brugada Syndrome 1 AD 601144
Brugada Syndrome 2 AD 611777
Brugada Syndrome 3 AD 611875
Brugada Syndrome 4 AD 611876
Brugada Syndrome 5 AD 612838
Brugada Syndrome 6 AD 613119
Brugada Syndrome 7 AD 613120
Brugada Syndrome 8 AD 613123
Brugada Syndrome 9 AD 616399
Cardiac Conduction Disease with or without Dilated Cardiomyopathy AD 616117
Cardio-Facio-Cutaneous Syndrome AD 115150
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 AR 615119
Cardiofaciocutaneous syndrome 2 AD 615278
Cardiofaciocutaneous syndrome 3 AD,AR 615279
Cardiofaciocutaneous syndrome 4 AD 615280
Cardiomyopathy Dilated With Woolly Hair And Keratoderma AR 605676
Cardiomyopathy, Dilated, 1Hh AD 613881
Cardiomyopathy, dilated, 1II AD 615184
Cardiomyopathy, dilated, 1JJ AD 615235
Cardiomyopathy, Dilated, 1KK AD 615248
Cardiomyopathy, Dilated, 2B AR 614672
Cardiomyopathy, dilated, 2C AR 618189
Cardiomyopathy, dilated, 2G AR 619897
Cardiomyopathy, Dilated, 3B XL 302045
Cardiomyopathy, familial hypertrophic 27 AR 618052
Cardiomyopathy, Familial Hypertrophic, 17 AD 613873
Cardiomyopathy, Familial Hypertrophic, 19 AD 613875
Cardiomyopathy, familial hypertrophic, 28 AD 619402
Cardiomyopathy, familial restrictive 5 AD 617047
Cardiomyopathy, Familial Restrictive, 1 AD 115210
Carney Complex, Type 1 AD 160980
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 AD 604772
Catecholaminergic Polymorphic Ventricular Tachycardia, 4 AD 614916
Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness AD 615441
Charcot-Marie-Tooth Disease, Type 2L AD 608673
Combined Oxidative Phosphorylation Deficiency 10 AR 614702
Combined Oxidative Phosphorylation Deficiency 17 AR 615440
Congenital Contractural Arachnodactyly AD 121050
Congenital Disorder Of Glycosylation Type 1M AR 610768
Congenital Fiber Type Disproportion AD,AR 255310
Costello Syndrome AD 218040
Cutis Laxa, Autosomal Recessive, Type IB AR 614437
Danon Disease XL 300257
Deafness, Autosomal Dominant 22 AD 606346
Dilated Cardiomyopathy 1A AD 115200
Dilated Cardiomyopathy 1Aa AD 612158
Dilated Cardiomyopathy 1C AD 601493
Dilated Cardiomyopathy 1CC AD 613122
Dilated Cardiomyopathy 1DD AD 613172
Dilated Cardiomyopathy 1E AD 601154
Dilated Cardiomyopathy 1Ee AD 613252
Dilated Cardiomyopathy 1FF AD 613286
Dilated Cardiomyopathy 1I AD 604765
Dilated Cardiomyopathy 1J AD 605362
Dilated Cardiomyopathy 1L AD 606685
Dilated Cardiomyopathy 1N AD 607487
Dilated Cardiomyopathy 1P AD 609909
Dilated Cardiomyopathy 1R AD 613424
Dilated Cardiomyopathy 1S AD 613426
Dilated Cardiomyopathy 1W AD 611407
Dilated Cardiomyopathy 1X AR 611615
Dilated Cardiomyopathy 1Y AD 611878
Dilated Cardiomyopathy 2A AD 611880
Duane-Radial Ray Syndrome AD 607323
Ehlers-Danlos Syndrome, Type 1 AD 130000
Ehlers-Danlos Syndrome, Type 4 AD 130050
Emery-Dreifuss Muscular Dystrophy 1, X-Linked XL 310300
Emery-Dreifuss muscular dystrophy-6 XL 300696
Episodic Pain Syndrome, Familial, 2 AD 615551
Fabry's Disease XL 301500
Fallot Tetralogy AD 187500
Familial Hypercholesterolemia AD 143890
Familial Hypertrophic Cardiomyopathy 1 AD 192600
Familial Hypertrophic Cardiomyopathy 10 AD 608758
Familial Hypertrophic Cardiomyopathy 11 AD 612098
Familial Hypertrophic Cardiomyopathy 12 AD 612124
Familial Hypertrophic Cardiomyopathy 13 AD 613243
Familial Hypertrophic Cardiomyopathy 14 AD 613251
Familial Hypertrophic Cardiomyopathy 16 AD 613838
Familial Hypertrophic Cardiomyopathy 18 AD 613874
Familial Hypertrophic Cardiomyopathy 2 AD 115195
Familial Hypertrophic Cardiomyopathy 20 AD 613876
Familial Hypertrophic Cardiomyopathy 4 AD 115197
Familial Hypertrophic Cardiomyopathy 6 AD 600858
Familial Hypertrophic Cardiomyopathy 7 AD 613690
Familial Hypertrophic Cardiomyopathy 8 AD 608751
Familial Hypertrophic Cardiomyopathy 9 AD 613765
Familial Type 5 Hyperlipoproteinemia AD 144650
Fasting Plasma Glucose Level Quantitative Trait Locus 5 AR 613463
Glucocorticoid deficiency 5 AR 617825
Glycogen Storage Disease Of Heart, Lethal Congenital AD 261740
Glycogen Storage Disease Type II AR 232300
Hemochromatosis Type 1 AR 235200
Heterotaxy, Visceral, 5 AD 270100
Holt-Oram Syndrome AD 142900
Homocystinuria Due To Cbs Deficiency AR 236200
Hyperalphalipoproteinemia AD 143470
Hypercholesterolemia, Autosomal Recessive AR 603813
Hyperlipidemia, Familial Combined AD 144250
Hyperlipoproteinemia, Type 1D AR 615947
Hyperlipoproteinemia, Type I AR 238600
Hyperlipoproteinemia, Type III AR 617347
Hypoplastic Left Heart Syndrome 2 AD 614435
Juvenile Myelomonocytic Leukemia AD 607785
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome AD 175050
Left Ventricular Noncompaction 1 AD 604169
Left ventricular noncompaction 10 AD 615396
Left Ventricular Noncompaction 7 AD 615092
Left Ventricular Noncompaction 8 AD 615373
Leigh Syndrome AR,MT 256000
LEOPARD Syndrome AD 151100
LEOPARD Syndrome 2 AD 611554
Lipase Deficiency Combined AR 246650
Loeys-Dietz Syndrome 1 AD 609192
Loeys-Dietz Syndrome 2 AD 610168
Loeys-Dietz Syndrome 3 AD 613795
Loeys-Dietz Syndrome 4 AD 614816
Long QT Syndrome 1 AD 192500
Long QT Syndrome 10 AD 611819
Long QT Syndrome 11 AD 611820
Long QT Syndrome 12 AD 612955
Long QT Syndrome 13 AD 613485
Long QT Syndrome 14 AD 616247
Long QT Syndrome 15 AD 616249
Long QT Syndrome 2 AD 613688
Long QT Syndrome 3 AD 603830
Long QT Syndrome 4 AD 600919
Long QT Syndrome 5 AD 613695
Long QT Syndrome 6 AD 613693
Long QT Syndrome 9 AD 611818
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency AR 609016
Malignant Hyperthermia AD 145600
Marfan Syndrome AD 154700
Merosin Deficient Congenital Muscular Dystrophy AR 607855
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration AR 616878
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) AR 615418
Multiple Self Healing Squamous Epithelioma AD 132800
Muscular Dystrophy, Limb Girdle, Type 2C AR 253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 AR 607155
Myofibrillar Myopathy, BAG3-Related AD 612954
Myofibrillar Myopathy, Filamin C-Related AD 609524
Myofibrillar Myopathy, ZASP-Related AD 609452
Myopathy, Distal, 4 AD 614065
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related AR 613869
Nemaline Myopathy 3 AD,AR 161800
Neurofibromatosis, Familial Spinal AD 162210
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis-Noonan Syndrome AD 601321
Noonan Syndrome 1 AD 163950
Noonan Syndrome 10 AD 616564
Noonan syndrome 11 AD 618499
Noonan syndrome 2 AR 605275
Noonan Syndrome 4 AD 610733
Noonan Syndrome 5 AD 611553
Noonan Syndrome 6 AD 613224
Noonan Syndrome 7 AD 613706
Noonan Syndrome 8 AD 615355
Noonan Syndrome 9 AD 616559
Noonan syndrome-like disorder with loose anagen hair 2 AD 617506
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia AD 613563
Noonan-Like Syndrome With Loose Anagen Hair AD 607721
Progressive Familial Heart Block Type 1A AD 113900
Progressive Familial Heart Block Type 1B AD 604559
Pulmonary hypertension, primary, 4 AD 615344
Schwannomatosis 2 AD 615670
Short QT Syndrome 1 AD 609620
Short QT Syndrome 2 AD 609621
Short QT Syndrome 3 AD 609622
Sick Sinus Syndrome 2, Autosomal Dominant AD 163800
Sick Sinus Syndrome 3, Susceptibility To AD 614090
Sitosterolemia AR 210250
Supravalvar Aortic Stenosis AD 185500
Timothy Syndrome AD 601005
Ulnar-Mammary Syndrome AD 181450
Ventricular Fibrillation, Paroxysmal Familial, 2 AD 612956
Ventricular Septal Defect 3 AD 614432
Ventricular tachycardia, catecholaminergic polymorphic 6 AD 618782
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 AD 611938
Ventricular tachycardia, catecholaminergic polymorphic, 3 AR 614021
Watson Syndrome AD 193520
Weill-Marchesani Syndrome 3 AR 614819
Wolff-Parkinson-White Pattern AD 194200
{Prostate cancer, hereditary, 2, susceptibility to} 614731

Related Test

Name
PGxome®

Citations

  • Ackerman M.J. et al. 2011. Europace. 13: 1077-109. PubMed ID: 21810866
  • Alders M, Christiaans I. Long QT Syndrome. 2015. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301308
  • Antzelevitch C. et al. 2005. Circulation. 111: 659-70. PubMed ID: 15655131
  • Bhuiyan Z.A. et al. 2009. Circulation. Cardiovascular Genetics. 2: 418-27. PubMed ID: 20031616
  • Cirino, A.L., Ho, C. 2014. Hypertrophic Cardiomyopathy Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301725
  • Crotti L. et al. 2012. Journal of the American College of Cardiology. 60: 1410-8. PubMed ID: 22840528
  • Hermida-Prieto M. et al. 2004. The American Journal of Cardiology. 94: 50-4. PubMed ID: 15219508
  • Hershberger R.E. et al. 2009. Circulation. Heart Failure. 2: 253-61. PubMed ID: 19808347
  • Hershberger R.E., Morales A. 2013. Dilated Cardiomyopathy Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301486
  • Hoedemaekers Y.M. et al. 2010. Circulation. Cardiovascular Genetics. 3: 232-9. PubMed ID: 20530761
  • Human Gene Mutation Database (Bio-base).
  • Ichida F. et al. 2001. Circulation. 103: 1256-63. PubMed ID: 11238270
  • Kapplinger J.D. et al. 2010. Heart Rhythm. 7: 33-46. PubMed ID: 20129283
  • Klaassen S. et al. 2008. Circulation. 117: 2893-901. PubMed ID: 18506004
  • McNally E. et al. 2014. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301310
  • Miyamoto A. et al. 2012. Heart Rhythm. 9: 66-74. PubMed ID: 21855519
  • Morita H. et al. 2008. The New England Journal of Medicine. 358: 1899-908. PubMed ID: 18403758
  • Napolitano, C. et al. 2014. Catecholaminergic Polymorphic Ventricular Tachycardia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301466
  • Oechslin E., Jenni R. 2011. European Heart Journal. 32: 1446-56. PubMed ID: 21285074
  • Online Mendelian Inheritance in Man: http://www.omim.org/
  • Roger V.L. et al. 2012. Circulation. 125: 188-97. PubMed ID: 22215894
  • Schimpf R. et al. 2008. Current Opinion in Cardiology. 23:192-8. PubMed ID: 18382206
  • Splawski I. et al. 2000. Circulation. 102: 1178-85. PubMed ID: 10973849
  • Taggart N.W. et al. 2007. Circulation. 115: 2613-20. PubMed ID: 17502575
  • Vatta M. et al. 2003. Journal of the American College of Cardiology. 42: 2014-27. PubMed ID: 14662268

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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