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Comprehensive Cardiology Sequencing Panel with CNV Detection

  • Summary and Pricing
  • Clinical Features and Genetics
  • Citations
  • Methods
  • Ordering/Specimens
Order Kits
TEST METHODS

Sequencing

Test Code Test Copy GenesCPT Code Copy CPT Codes
2663 ABCC9 81479, 81479 Add to Order
ABCG5 81479, 81479
ABCG8 81479, 81479
ACTA1 81479, 81479
ACTA2 81405, 81479
ACTC1 81405, 81479
ACTN2 81479, 81479
AKAP9 81479, 81479
ALMS1 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
CALR3 81479, 81479
CASQ2 81405, 81479
CAV3 81404, 81479
CAVIN4 81479, 81479
CBL 81479, 81479
CBS 81406, 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
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
ELN 81479, 81479
EMD 81405, 81404
EYA4 81479, 81479
FBN1 81408, 81479
FBN2 81479, 81479
FHL1 81404, 81479
FHL2 81479, 81479
FKRP 81404, 81479
FKTN 81405, 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
KCNH2 81406, 81479
KCNJ2 81403, 81479
KCNJ5 81479, 81479
KCNJ8 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
LPL 81479, 81479
LTBP2 81479, 81479
MAP2K1 81406, 81479
MAP2K2 81406, 81479
MIB1 81479, 81479
MYBPC3 81407, 81479
MYH11 81408, 81479
MYH6 81407, 81479
MYH7 81407, 81479
MYL2 81405, 81479
MYL3 81405, 81479
MYLK 81479, 81479
MYLK2 81479, 81479
MYO6 81479, 81479
MYOZ2 81479, 81479
MYPN 81479, 81479
NEXN 81479, 81479
NKX2-5 81479, 81479
NODAL 81479, 81479
NOTCH1 81408, 81479
NPPA 81479, 81479
NRAS 81479, 81479
PDLIM3 81479, 81479
PKP2 81406, 81479
PLN 81403, 81479
PRDM16 81479, 81479
PRKAG2 81406, 81479
PRKAR1A 81479, 81479
PTPN11 81406, 81479
RAF1 81406, 81479
RANGRF 81479, 81479
RBM20 81479, 81479
RYR1 81408, 81479
RYR2 81408, 81479
SALL4 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
SMAD3 81479, 81479
SMAD4 81406, 81405
SNTA1 81479, 81479
SOS1 81406, 81479
SREBF2 81479, 81479
TAZ 81406, 81479
TBX3 81479, 81479
TBX5 81405, 81479
TCAP 81479, 81479
TGFB2 81479, 81479
TGFB3 81479, 81479
TGFBR2 81405, 81479
TMEM43 81406, 81479
TMPO 81479, 81479
TNNC1 81405, 81479
TNNI3 81405, 81479
TNNT2 81406, 81479
TPM1 81405, 81479
TRDN 81479, 81479
TRIM63 81479, 81479
TRPM4 81479, 81479
TTN 81479, 81479
TTR 81404, 81479
VCL 81479, 81479
ZBTB17 81479, 81479
ZHX3 81479, 81479
ZIC3 81479, 81479
Full Panel Price* $2400.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
2663 Genes x (164) $2400.00 81161, 81403(x2), 81404(x10), 81405(x23), 81406(x26), 81407(x5), 81408(x7), 81479(x254) Add to Order
Pricing Comment

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. If you would like to order a subset of these genes contact us to discuss pricing.

Targeted Testing

For ordering targeted known variants, please proceed to our Targeted Variants landing page.

Turnaround Time

The great majority of tests are completed within 28 days.

Clinical Sensitivity

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).

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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, TAZ 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.

Testing Strategy

For this Next Generation Sequencing (NGS) test, sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization kit, followed by massively parallel sequencing of the captured DNA fragments. Additional Sanger sequencing is performed for any regions not captured or with insufficient number of sequence reads. All reported pathogenic, likely pathogenic, and variants of uncertain significance are confirmed by Sanger sequencing.

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

This panel provides full coverage of all coding exons of the genes listed, plus ~20 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads for coding regions and 0-10 bases of flanking DNA, >10X NGS reads for 11-20 bases of flanking DNA, or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

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
ANK2 106410
ANKRD1 609599
APOA4 107690
APOA5 606368
APOC2 608083
APOE 107741
BAG3 603883
BRAF 164757
CACNA1C 114205
CACNA2D1 114204
CACNB2 600003
CALM1 114180
CALR3 611414
CASQ2 114251
CAV3 601253
CAVIN4 0
CBL 165360
CBS 613381
CETP 118470
COL3A1 120180
COL5A2 120190
COX15 603646
CREB3L3 611998
CRELD1 607170
CRYAB 123590
CSRP3 600824
DES 125660
DMD 300377
DNAJC19 608977
DOLK 610746
DPP6 126141
DSC2 125645
DSG2 125671
DSP 125647
DTNA 601239
EFEMP2 604633
ELN 130160
EMD 300384
EYA4 603550
FBN1 134797
FBN2 612570
FHL1 300163
FHL2 602633
FKRP 606596
FKTN 607440
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
KCNH2 152427
KCNJ2 600681
KCNJ5 600734
KCNJ8 600935
KCNQ1 607542
KLF10 601878
KRAS 190070
LAMA2 156225
LAMA4 600133
LAMP2 309060
LDB3 605906
LDLR 606945
LDLRAP1 605747
LMF1 611761
LMNA 150330
LPL 609708
LTBP2 602091
MAP2K1 176872
MAP2K2 601263
MIB1 608677
MYBPC3 600958
MYH11 160745
MYH6 160710
MYH7 160760
MYL2 160781
MYL3 160790
MYLK 600922
MYLK2 606566
MYO6 600970
MYOZ2 605602
MYPN 608517
NEXN 613121
NKX2-5 600584
NODAL 601265
NOTCH1 190198
NPPA 108780
NRAS 164790
PDLIM3 605889
PKP2 602861
PLN 172405
PRDM16 605557
PRKAG2 602743
PRKAR1A 188830
PTPN11 176876
RAF1 164760
RANGRF 607954
RBM20 613171
RYR1 180901
RYR2 180902
SALL4 607343
SCN1B 600235
SCN2B 601327
SCN3B 608214
SCN4B 608256
SCN5A 600163
SCO2 604272
SELENON 606210
SGCD 601411
SGCG 608896
SHOC2 602775
SLC25A4 103220
SLC2A10 606145
SMAD3 603109
SMAD4 600993
SNTA1 601017
SOS1 182530
SREBF2 600481
TAZ 300394
TBX3 601621
TBX5 601620
TCAP 604488
TGFB2 190220
TGFB3 190230
TGFBR2 190182
TMEM43 612048
TMPO 188380
TNNC1 191040
TNNI3 191044
TNNT2 191045
TPM1 191010
TRDN 603283
TRIM63 606131
TRPM4 606936
TTN 188840
TTR 176300
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
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
Arterial Tortuosity Syndrome AR 208050
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, 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 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
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, 3B XL 302045
Cardiomyopathy, Familial Hypertrophic, 17 AD 613873
Cardiomyopathy, Familial Hypertrophic, 19 AD 613875
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
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
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
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 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 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 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
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) AR 615418
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, ZASP-Related AD 609452
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related AR 613869
Nemaline Myopathy 3 AD,AR 161800
Noonan Syndrome 1 AD 163950
Noonan Syndrome 4 AD 610733
Noonan Syndrome 5 AD 611553
Noonan Syndrome 6 AD 613224
Noonan Syndrome 7 AD 613706
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
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, 2 AD 611938
Weill-Marchesani Syndrome 3 AR 614819
Wolff-Parkinson-White Pattern AD 194200

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Alagille Syndrome Sequencing Panel
Alagille Syndrome-1 via the JAG1 Gene
Alstrom Syndrome via the ALMS1 Gene
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TGFB3 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene
Arterial tortuosity syndrome (ATS) via the SLC2A10 Gene
Atrial Fibrillation Syndrome via the KCNA5 Gene
Atrial Fibrillation Syndrome via the KCNE5 Gene
Atrial Fibrillation Syndrome via the MYL4 Gene
Atrial Fibrillation Syndrome via the NPPA Gene
Atrial Fibrillation via the GJA5 Gene
Atrial Fibrillation via the SCN2B Gene
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Sequencing Panel with CNV Detection
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel
Barth Syndrome via the TAZ Gene
Bleeding Disorders Sequencing Panel
Brugada Syndrome 1 via the SCN5A Gene
Brugada Syndrome Sequencing Panel
Brugada Syndrome via the CACNA2D1 Gene
Brugada Syndrome via the CACNB2 Gene
Brugada Syndrome via the GPD1L Gene
Brugada Syndrome via the RANGRF Gene
Brugada Syndrome via the SCN1B Gene
Brugada Syndrome via the SCN3B Gene
Brugada Syndrome via the SLMAP Gene
Brugada Syndrome via the KCND3 Gene
Brugada Syndrome via the KCNE3 Gene
Cancer Sequencing and Deletion/Duplication Panel
Cantu Syndrome via the ABCC9 Gene
Cardio-Facio-Cutaneous Syndrome via the MAP2K1 Gene
Cardio-Facio-Cutaneous Syndrome via the MAP2K2 Gene
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via the CALM1 Gene
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene
Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN Gene
Caveolinopathy via the CAV3 Gene
Cholestasis Sequencing Panel
Ciliopathy Sequencing Panel
Colorectal Cancer Sequencing And Deletion/Duplication Panel
Comprehensive Cardiac Arrhythmia Sequencing Panel
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection
Comprehensive Neuromuscular Sequencing Panel
Comprehensive Neuropathy Sequencing Panel
Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene
Congenital Fiber Type Disproportion Sequencing Panel
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel
Congenital Muscular Dystrophy Sequencing Panel
Congenital Myopathy Sequencing Panel
Core Myopathy Sequencing Panel
Costello Syndrome via the HRAS Gene
Danon Disease/Glycogen Storage Disease IIb via the LAMP2 Gene
Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via the SGCD Gene
Dilated Cardiomyopathy Sequencing Panel with CNV Detection
Dilated Cardiomyopathy via RBM20 Gene Sequencing with CNV Detection
Dilated Cardiomyopathy via NEXN Gene Sequencing with CNV Detection
Disorders of Fatty Acid Oxidation Sequencing Panel
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection
Disorders of Sex Development Sequencing Panel with CNV Detection
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel
Distal Arthrogryposis Sequencing Panel
Distal Hereditary Myopathy Sequencing Panel
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via the SALL4 Gene
Early Infantile Epileptic Encephalopathy Sequencing Panel
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
Ehlers-Danlos Syndrome Sequencing Panel
Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection
Epilepsy: Dravet Syndrome Sequencing Panel
Epilepsy: Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Sequencing Panel
Episodic Pain Syndrome Sequencing Panel
Fabry Disease via the GLA Gene
Familial Amyloidosis via the APOA1 Gene
Familial Amyloidosis via the TTR Gene
Familial Atrial Fibrillation Syndrome Sequencing Panel
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene
Familial Hypercholesterolemia Sequencing Panel
Familial Hypercholesterolemia via the LDLR Gene
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel
Female Infertility Sequencing Panel with CNV Detection
Fetal Concerns Sequencing Panel with CNV Detection
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene
Glaucoma Sequencing Panel
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel
Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene
Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene, Exon 18 Deletion
Hereditary Hemochromatosis Sequencing Panel
Hereditary Hemochromatosis via the HFE gene
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel
Heterotaxy and Conotruncal Heart Defects via the GDF1 Gene
Holt-Oram Syndrome (HOS) via the TBX5 Gene
Homocystinuria Sequencing Panel
Homocystinuria via the CBS Gene
Hyperammonemia Sequencing Panel
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the ACTN2 Gene
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the CSRP3 Gene
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the PLN Gene
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the TPM1 Gene
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene
Hypertrophic Cardiomyopathy and Related Disorders via the ACTC1 Gene
Hypertrophic Cardiomyopathy and Related Disorders via the TNNI3 Gene
Hypertrophic Cardiomyopathy and Related Disorders via the TNNT2 Gene
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection
Hypertrophic Cardiomyopathy via the MYBPC3 Gene
Hypertrophic Cardiomyopathy via the MYL2 Gene
Hypertrophic Cardiomyopathy via the MYL3 Gene
Hypertrophic Cardiomyopathy via the TNNC1 Gene
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene
Isolated Nonsyndromic Congenital Heart Defects via the ZFPM2 (FOG2) Gene
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via the SMAD4 Gene
Laminopathies via the LMNA Gene
Left Ventricular Noncompaction (LVNC) Sequencing Panel with CNV Detection
Left Ventricular Noncompaction (LVNC) via the DTNA Gene
Leigh Syndrome Associated with Isolated Complex I Deficiency via the NDUFA12 Gene
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFA9 Gene
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFAF2 Gene
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFS7 Gene
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel
Loeys-Dietz Syndrome 4 via the TGFB2 Gene
Loeys-Dietz Syndrome Sequencing Panel
Loeys-Dietz Syndrome via the TGFBR1 Gene
Loeys-Dietz Syndrome via the TGFBR2 Gene
Long QT Syndrome and Jervell and Lange-Nielsen Syndrome via the KCNE1 Gene
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene
Long QT Syndrome Sequencing Panel
Long QT Syndrome via the ANK2 Gene
Long QT Syndrome via the KCNE2 Gene
Long QT Syndrome via the KCNH2 Gene
Long QT Syndrome via the SCN4B Gene
Long QT syndrome via the SNTA1 Gene
Long QT Syndrome via the AKAP9 Gene
Long QT Syndrome via the CALM2 Gene
Long QT Syndrome via the KCNJ5 Gene
Male Infertility Sequencing Panel with CNV Detection
Malignant Hyperthermia Susceptibility Sequencing Panel
Marfan Syndrome and Related Aortopathies Sequencing Panel
Marfan Syndrome via the FBN1 Gene
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene (Mexican Exon 55 Mutation)
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Mitochondrial Complex I Deficiency via the NDUFS4 Gene
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)
Mitochondrial Complex IV Deficiency via COX15 Gene Sequencing with CNV Detection
Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency via the HADHA Gene
Myofibrillar Myopathy Sequencing Panel
Myofibrillar Myopathy via the CRYAB Gene
Myofibrillar Myopathy via the DES Gene
Myofibrillar Myopathy via the LDB3 (ZASP) Gene
Myopathy, Congenital via the TPM3 Gene
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene
Nemaline Myopathy Sequencing Panel
Noonan Spectrum Disorders/Rasopathies Sequencing Panel
Noonan Syndrome via the NRAS Gene
Noonan Syndrome via the SOS1 Gene
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene
Pan Cardiomyopathy Sequencing Panel with CNV Detection
Primary Aldosteronism Sequencing Panel with CNV Detection
Primary Periodic Paralysis Sequencing Panel
Progressive Familial Heart Block via the TRPM4 Gene
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel
Selenoprotein N, 1 via the SELENON/SEPN1 Gene
Short QT Syndrome Sequencing Panel
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene
Sitosterolemia Sequencing Panel
Sitosterolemia via the ABCG5 Gene
Sitosterolemia via the ABCG8 Gene
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection
Sudden Cardiac Arrest Sequencing Panel with CNV Detection
Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene
Telethoninopathy via the TCAP Gene
Thoracic Aortic Aneurysm and Dissection (TAAD) via the SMAD3 Gene
Thrombocytopenia Sequencing Panel - Expanded
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene
Ulnar-Mammary Syndrome via the TBX3 Gene
X-Linked Intellectual Disability Sequencing Panel with CNV Detection

CONTACTS

Genetic Counselors
Geneticist
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
Order Kits
TEST METHODS

Exome Sequencing with CNV Detection

Test Procedure

For the PGxome we use Next Generation Sequencing (NGS) technologies to cover the coding regions of targeted genes plus ~10 bases of non-coding DNA flanking each exon. As required, genomic DNA is extracted from patient specimens. Patient DNA corresponding to these regions is captured using Agilent Clinical Research Exome hybridization probes. Captured DNA is sequenced on the NovaSeq 6000 using 2x150 bp paired-end reads (Illumina, San Diego, CA, USA). The following quality control metrics are generally achieved: >97% of target bases are covered at >20x, and mean coverage of target bases >120x. Data analysis and interpretation is performed by the internally developed software Titanium-Exome. In brief, the output data from the NovaSeq 6000 is converted to fastqs by Illumina Bcl2Fastq, and mapped by BWA. Variant calls are made by the GATK Haplotype caller and annotated using in house software and SnpEff. Variants are filtered and annotated using VarSeq (www.goldenhelix.com). Common benign, likely benign, and low quality variants are filtered from analysis. All reported pathogenic, likely pathogenic, and variants of uncertain significance are confirmed by Sanger sequencing.

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

Analytical Validity

Copy Number Variant Analysis: The PGxome test detects most larger deletions and duplications including intragenic CNVs and large cytogenetic events; however aberrations in a small percentage of regions may not be accurately detected due to sequence paralogy (e.g., pseudogenes, segmental duplications), sequence properties, deletion/duplication size (e.g., 1-3 exons vs. 4 or more exons), and inadequate coverage. In general, sensitivity for single, double, or triple exon CNVs is ~70% and for CNVs of four exon size or larger is close to 100%, but may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region.

Analytical Limitations

Interpretation of the test results is limited by the information that is currently available. Better interpretation should be possible in the future as more data and knowledge about human genetics and this specific disorder are accumulated.

When sequencing does not reveal any heterozygous differences from the reference sequence, we cannot be certain that we were able to detect both patient alleles.

For technical reasons, the PGxome test is not 100% sensitive. Some exons cannot be efficiently captured, and some genes cannot be accurately sequenced because of the presence of multiple copies in the genome. Therefore, a small fraction of sequence variants will not be detected.

We sequence coding exons for most given transcripts, plus ~10 bp of flanking non-coding DNA for each exon. Unless specifically indicated, test reports contain no information about other portions of the gene, such as regulatory domains, deep intronic regions, uncharacterized alternative exons, chromosomal rearrangements, repeat expansions, epigenetic effects, and mitochondrial genome variants.

In most cases, we are unable to determine the phase of sequence variants. In particular, when we find two likely causative mutations for recessive disorders, we cannot be certain that the mutations are on different alleles.

Our ability to detect minor sequence variants due to somatic mosaicism is limited. Sequence variants that are present in less than 50% of the patient's nucleated cells may not be detected.

Runs of mononucleotide repeats (eg (A)n or (T)n) with n >8 in the reference sequence are generally not analyzed because of strand slippage during amplification.

Unless otherwise indicated, DNA sequence data is obtained from a specific cell-type (usually leukocytes if taken from whole blood). Test reports contain no information about the DNA sequence in other cell-types.

We cannot be certain that the reference sequences are correct.

Balanced translocations or inversions are only rarely detected.

Certain types of sex chromosome aneuploidy may not be detected.  

In nearly all cases, our ability to determine the exact copy number change within a targeted region is limited.

Our ability to detect CNVs due to somatic mosaicism is limited.

We have confidence in our ability to track a specimen once it has been received by PreventionGenetics. However, we take no responsibility for any specimen labeling errors that occur before the sample arrives at PreventionGenetics.

A negative finding does not rule out a genetic diagnosis.

Genetic counseling to help to explain test results to the patients and to discuss reproductive options is recommended.

Order Kits

Ordering Options


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.
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.

SPECIMEN TYPES
WHOLE BLOOD

(Delivery accepted Monday - Saturday)

  • Collect 3 ml -5 ml (5 ml preferred) of whole blood in EDTA (purple top tube) or ACD (yellow top tube). For Test #500-DNA Banking only, collect 10 ml -20 ml of whole blood.
  • For small babies, we require a minimum of 1 ml of blood.
  • Only one blood tube is required for multiple tests.
  • Ship blood tubes at room temperature in an insulated container. Do not freeze blood.
  • During hot weather, include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube.
  • In cold weather, include an unfrozen ice pack in the shipping container as insulation.
  • At room temperature, blood specimen is stable for up to 48 hours.
  • If refrigerated, blood specimen is stable for up to one week.
  • Label the tube with the patient name, date of birth and/or ID number.

DNA

(Delivery accepted Monday - Saturday)

  • Send in screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml for NGS and Sanger tests and at least 5 µg of purified DNA at a concentration of at least 100 µg/ml for gene-centric aCGH, MLPA, and CMA tests, minimum 2 µg for limited specimens.
  • For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible.
  • DNA may be shipped at room temperature.
  • Label the tube with the composition of the solute, DNA concentration as well as the patient’s name, date of birth, and/or ID number.
  • We only accept genomic DNA for testing. We do NOT accept products of whole genome amplification reactions or other amplification reactions.

CELL CULTURE

(Delivery preferred Monday - Thursday)

  • PreventionGenetics should be notified in advance of arrival of a cell culture.
  • Culture and send at least two T25 flasks of confluent cells.
  • Some panels may require additional flasks (dependent on size of genes, amount of Sanger sequencing required, etc.). Multiple test requests may also require additional flasks. Please contact us for details.
  • Send specimens in insulated, shatterproof container overnight.
  • Cell cultures may be shipped at room temperature or refrigerated.
  • Label the flasks with the patient name, date of birth, and/or ID number.
  • We strongly recommend maintaining a local back-up culture. We do not culture cells.
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