Comprehensive Congenital Heart Disease Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13008 ABCC9 81479,81479 Order Options and Pricing
ABL1 81479,81479
ACTA2 81405,81479
ACTB 81479,81479
ACTC1 81405,81479
ACTG1 81479,81479
ACTN2 81479,81479
ACVR1 81479,81479
ACVR2B 81479,81479
ADAMTS10 81479,81479
AFF4 81479,81479
AHI1 81407,81479
AK7 81479,81479
AKAP9 81479,81479
ALMS1 81479,81479
AMMECR1 81479,81479
ANK2 81479,81479
ANKRD1 81405,81479
ANKS6 81479,81479
ARHGAP31 81479,81479
ARID1A 81479,81479
ARID1B 81479,81479
ARL13B 81479,81479
ARL6 81479,81479
B3GAT3 81479,81479
B3GLCT 81479,81479
B9D1 81479,81479
B9D2 81479,81479
BAG3 81479,81479
BBIP1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
BCOR 81479,81479
BMPR2 81406,81405
BRAF 81406,81479
BRCA1 and BRCA2 81162
BRIP1 81479,81479
C2CD3 81479,81479
CACNA1C 81479,81479
CACNA2D1 81479,81479
CACNB2 81406,81479
CALM1 81479,81479
CALM2 81479,81479
CALM3 81479,81479
CASQ2 81405,81479
CAV3 81404,81479
CBL 81479,81479
CC2D2A 81479,81479
CCDC103 81479,81479
CCDC39 81479,81479
CCDC40 81479,81479
CCDC65 81479,81479
CCNO 81479,81479
CDH2 81479,81479
CDK13 81479,81479
CDKN1C 81479,81479
CEP104 81479,81479
CEP120 81479,81479
CEP164 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CEP83 81479,81479
CFAP298 81479,81479
CFAP53 81479,81479
CHD4 81479,81479
CHD7 81407,81479
CITED2 81479,81479
COL3A1 81479,81479
COL5A1 81479,81479
COL5A2 81479,81479
CREBBP 81407,81406
CRELD1 81479,81479
CRYAB 81479,81479
CSPP1 81479,81479
CSRP3 81479,81479
CTNNA3 81479,81479
DCDC2 81479,81479
DCHS1 81479,81479
DDX59 81479,81479
DES 81405,81479
DHCR7 81405,81479
DLL4 81479,81479
DMD 81408,81161
DNAAF1 81479,81479
DNAAF11 81479,81479
DNAAF2 81479,81479
DNAAF3 81479,81479
DNAAF4 81479,81479
DNAAF5 81479,81479
DNAAF6 81479,81479
DNAH1 81479,81479
DNAH11 81479,81479
DNAH5 81479,81479
DNAH6 81479,81479
DNAH8 81479,81479
DNAI1 81479,81479
DNAI2 81479,81479
DNAJB13 81479,81479
DNAL1 81479,81479
DOCK6 81479,81479
DOLK 81479,81479
DRC1 81479,81479
DSC2 81406,81479
DSG2 81406,81479
DSP 81406,81479
DTNA 81479,81479
DYNC2H1 81479,81479
DYNC2I1 81479,81479
DYNC2I2 81479,81479
DYNC2LI1 81479,81479
DYNLT2B 81479,81479
EFTUD2 81479,81479
EHMT1 81479,81479
EIF2AK4 81479,81479
ELN 81479,81479
EMD 81405,81404
ENG 81406,81405
EOGT 81479,81479
EP300 81479,81479
ERCC4 81479,81479
ESCO2 81479,81479
EVC 81479,81479
EVC2 81479,81479
EYA4 81479,81479
FANCA 81479,81479
FANCB 81479,81479
FANCC 81479,81479
FANCD2 81479,81479
FANCE 81479,81479
FANCF 81479,81479
FANCG 81479,81479
FANCI 81479,81479
FANCL 81479,81479
FANCM 81479,81479
FBN1 81408,81479
FBN2 81479,81479
FHL1 81404,81479
FHL2 81479,81479
FKTN 81405,81479
FLNA 81479,81479
FLNC 81479,81479
FLT4 81479,81479
FOXC1 81479,81479
FOXF1 81479,81479
FOXH1 81479,81479
GAA 81406,81479
GANAB 81479,81479
GAS8 81479,81479
GATA1 81479,81479
GATA4 81479,81479
GATA5 81479,81479
GATA6 81479,81479
GATAD1 81479,81479
GDF1 81479,81479
GJA1 81479,81479
GJA5 81479,81479
GLA 81405,81479
GLIS2 81479,81479
GPC3 81479,81479
GPD1L 81479,81479
HAND1 81479,81479
HAND2 81479,81479
HCN4 81479,81479
HDAC8 81479,81479
HNRNPK 81479,81479
HOXA1 81479,81479
HRAS 81404,81479
IFT122 81479,81479
IFT140 81479,81479
IFT172 81479,81479
IFT27 81479,81479
IFT43 81479,81479
IFT52 81479,81479
IFT57 81479,81479
IFT80 81479,81479
ILK 81479,81479
INPP5E 81479,81479
INTU 81479,81479
INVS 81479,81479
IQCB1 81479,81479
JAG1 81407,81406
JPH2 81479,81479
JUP 81406,81479
KAT6B 81479,81479
KATNIP 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
KCNQ1 81406,81479
KDM6A 81479,81479
KIAA0586 81479,81479
KIAA0753 81479,81479
KIF14 81479,81479
KIF7 81479,81479
KMT2D 81479,81479
KRAS 81405,81479
LAMA4 81479,81479
LAMP2 81405,81479
LDB3 81406,81479
LEFTY2 81479,81479
LMNA 81406,81479
LZTFL1 81479,81479
LZTR1 81479,81479
MAD2L2 81479,81479
MAP2K1 81406,81479
MAP2K2 81406,81479
MCIDAS 81479,81479
MCTP2 81479,81479
MED13L 81479,81479
MEGF8 81479,81479
MEIS2 81479,81479
MIB1 81479,81479
MKKS 81479,81479
MKS1 81479,81479
MMP21 81479,81479
MRAS 81479,81479
MYBPC3 81407,81479
MYCN 81479,81479
MYH11 81408,81479
MYH6 81407,81479
MYH7 81407,81479
MYL2 81405,81479
MYL3 81405,81479
MYLK2 81479,81479
MYOZ2 81479,81479
MYPN 81479,81479
MYRF 81479,81479
NEBL 81479,81479
NEK1 81479,81479
NEK8 81479,81479
NEXN 81479,81479
NF1 81408,81479
NHS 81479,81479
NIPBL 81479,81479
NKX2-5 81479,81479
NKX2-6 81479,81479
NME8 81479,81479
NODAL 81479,81479
NONO 81479,81479
NOTCH1 81407,81479
NOTCH2 81479,81479
NPHP1 81406,81405
NPHP3 81479,81479
NPHP4 81479,81479
NR2F2 81479,81479
NRAS 81479,81479
NSD1 81406,81405
ODAD1 81479,81479
ODAD2 81479,81479
ODAD3 81479,81479
ODAD4 81479,81479
OFD1 81479,81479
PALB2 81307,81479
PDE6B 81479,81479
PDE6D 81479,81479
PDGFRA 81479,81479
PDLIM3 81479,81479
PIBF1 81479,81479
PITX2 81479,81479
PKD1L1 81479,81479
PKHD1 81408,81479
PKP2 81406,81479
PLN 81403,81479
POC1B 81479,81479
PPCS 81479,81479
PPP1CB 81479,81479
PRDM16 81479,81479
PRDM6 81479,81479
PRKAG2 81406,81479
PRKAR1A 81479,81479
PRKD1 81479,81479
PTPN11 81406,81479
PUF60 81479,81479
RAB23 81479,81479
RAD51 81479,81479
RAD51C 81479,81479
RAF1 81406,81479
RAI1 81405,81479
RANGRF 81479,81479
RASA2 81479,81479
RBM10 81479,81479
RBM20 81479,81479
RBPJ 81479,81479
RECQL4 81479,81479
RERE 81479,81479
RFWD3 81479,81479
RIT1 81479,81479
ROR2 81479,81479
RPGRIP1L 81479,81479
RPL11 81479,81479
RPL15 81479,81479
RPL26 81479,81479
RPL35A 81479,81479
RPL5 81479,81479
RPS10 81479,81479
RPS17 81479,81479
RPS19 81479,81479
RPS24 81479,81479
RPS26 81479,81479
RPS6KA3 81479,81479
RPS7 81479,81479
RRAS 81479,81479
RRAS2 81479,81479
RSPH1 81479,81479
RSPH3 81479,81479
RSPH4A 81479,81479
RSPH9 81479,81479
RYR2 81408,81479
SALL1 81479,81479
SALL4 81479,81479
SCLT1 81479,81479
SCN10A 81479,81479
SCN1B 81404,81479
SCN2B 81479,81479
SCN3B 81479,81479
SCN4B 81479,81479
SCN5A 81407,81479
SCO2 81404,81479
SDCCAG8 81479,81479
SGCD 81405,81479
SHOC2 81405,81479
SLMAP 81479,81479
SLX4 81479,81479
SMAD3 81479,81479
SMAD6 81479,81479
SMARCA4 81479,81479
SMARCB1 81479,81479
SMARCE1 81479,81479
SMC1A 81479,81479
SMC3 81479,81479
SNTA1 81479,81479
SOS1 81406,81479
SOS2 81479,81479
SPAG1 81479,81479
STAG2 81479,81479
STRA6 81479,81479
TAB2 81479,81479
TAFAZZIN 81406,81479
TBX1 81479,81479
TBX20 81479,81479
TBX5 81405,81479
TCAP 81479,81479
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TFAP2B 81479,81479
TGDS 81479,81479
TGFB3 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
TLL1 81479,81479
TMEM107 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM43 81406,81479
TMEM67 81407,81479
TMEM94 81479,81479
TMPO 81479,81479
TNNC1 81405,81479
TNNI3 81405,81479
TNNT2 81406,81479
TPM1 81405,81479
TRDN 81479,81479
TRIM32 81479,81479
TRPM4 81479,81479
TTC21B 81479,81479
TTC8 81479,81479
TTN 81479,81479
TTR 81404,81479
TWIST1 81404,81403
TXNRD2 81479,81479
UBE2T 81479,81479
VCL 81479,81479
WDPCP 81479,81479
WDR19 81479,81479
WDR35 81479,81479
WNT5A 81479,81479
XRCC2 81479,81479
ZEB2 81405,81404
ZFPM2 81479,81479
ZIC3 81479,81479
ZMYND10 81479,81479
ZNF423 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13008Genes x (398)81479 81161(x1), 81162(x1), 81307(x1), 81403(x3), 81404(x10), 81405(x27), 81406(x29), 81407(x10), 81408(x7), 81479(x704) $1490 Order Options and Pricing

Pricing Comments

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 backbone).

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

Turnaround Time

28 days on average for standard orders or 13 days 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

Clinical Features and Genetics

Clinical Features

Congenital heart disease (CHDs) encompasses a wide range of syndromic and non-syndromic conditions that feature structural abnormalities of the heart that arise during development. Non-syndromic congenital heart disease is one of the most common birth defects and occurs in 1-3% of live births (Hoffman and Kaplan. 2002. PubMed ID: 12084585; van der Linde et al. 2011. PubMed ID: 22078432). In syndromic disorders, CHDs are a significant source of morbidity and mortality. Structural defects can include (but are not limited to): conotruncal abnormalities (tetralogy of Fallot, double-outlet right ventricle (DORV), truncus arteriosus, transposition of the great arteries (TGA)), left ventricular outflow tract obstruction (coarctation of the aorta, aortic valve stenosis, bicuspid aortic valve, hypoplastic left heart), septal defects, cardiomyopathies, laterality defects (heterotaxy), aortopathies, and arrhythmia. CHDs most commonly present as isolated structural defects of the heart; however, they can also present as part of a syndrome. Syndromes that frequently present with CHDs include (but are not limited to): Alagille, RASopathy/Noonan spectrum, CHARGE, Holt-Oram, Kabuki, Coffin-Siris, Cornelia de Lange, Rubinstein-Taybi, and Adams-Oliver.

Improved surgical and medical interventions has resulted in increasing prevalence of CHDs in adults. Determining the genetic etiology of CHDs allows for the identification of potential unanticipated extracardiac involvement, assess recurrence risk in future pregnancies, and can provide a more accurate prognosis.

Genetics

The causes of congenital heart disease are many and varied, but some of the most common pathways include transcription factors important for heart development (NKX2-5GATA4-6HAND1TBX1), genes involved in the RAS pathway resulting in RASopathy/Noonan syndrome phenotypes (PTPN11SOS1, etc.), Notch signaling (JAG1NOTCH1/2), and cilia function (Primary ciliary dyskinesia, Heterotaxy, Bardet-Biedl Syndrome, Joubert Syndrome).

CHDs are genetically heterogeneous and can be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) manners. A wide range of genetic abnormalities, including aneuploidy (Down syndrome, Turner syndrome), chromosomal rearrangements, copy number variation (22q11.2 deletion syndrome, Williams-Beuren syndrome, Jacobsen syndrome, etc.), single nucleotide variants (SNVs), and insertions/deletions have been associated with CHDs.

Pathogenic copy number variants (CNVs) (karyotype and CMA) can explain 25-33% (Turan et al. 2018. PubMed ID: 29306563), while monogenic causes account for 6-30% of CHD cases (Blue et al. 2014. PubMed ID: 25500235; Jin et al. 2017. PubMed ID: 28991257; Hauser et al. 2018. PubMed ID: 29368431; Alankarage et al. 2019. PubMed ID: 30293987). De novo variants have been found to be enriched as well and potentially accounting for ~8% of cases of isolated CHD; however, not all of these genes have been definitively linked to CHD (Jin et al. 2017. PubMed ID: 28991257). While environmental factors cause ~2% of cases (Kuciene and Dulskiene. 2008. PubMed ID: 19124958), it is presumed that a large portion of the remaining unexplained cases are oligogenic or a combination of environmental and genetic factors.

See individual gene summaries for information on molecular biology of gene products and spectra of pathogenic variants.

Syndrome Gene(s) (some genes are listed more than once)
Nonsyndromic Heart Disease ACTC1, ACVR1, CITED2, CRELD1, DCHS1, ELN, FLT4, GATA4, GATA5, GATA6, GJA1, HAND1, HAND2, JAG1, MCTP2, MED13L, MYH11, MYH6, MYH7, NKX2-5, NKX2-6, NOTCH1, NR2F2, PDGFRA, PRDM6, SMAD6, TAB2, TBX20, TLL1, ZFPM2
Alagille Syndrome JAG1, NOTCH2
Cardiofaciocutaneous Syndrome BRAF, KRAS, MAP2K1, MAP2K2
Cantu Syndrome ABCC9
Char Syndrome TFAP2B
CHARGE Syndrome CHD7
Costello Syndrome HRAS
22q11.2 Deletion Syndrome/DiGeorge Syndrome TBX1
Ellis-van Creveld Syndrome EVC, EVC2
Holt-Oram Syndrome TBX5
Kabuki Syndrome KDM6A, KMT2D
Noonan Syndrome BRAF, CBL, KAT6B, KRAS, LZTR1, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, RRAS2, SHOC2, SOS1, SOS2
Williams-Beuren Syndrome ELN
Carpenter Syndrome RAB23
Coffin-Siris Syndrome ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCB1, SMARCE1
Cornelia de Lange Syndrome HDAC8, NIPBL, SMC1A, SMC3
Mowat-Wilson Syndrome ZEB2
Rubinstein-Taybi Syndrome CREBBP, EP300
Smith-Lemli-Opitz Syndrome DHCR7
Adams-Oliver Syndrome ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ
Baller-Gerold Syndrome RECQL4
Beckwith-Wiedemann Syndrome CDKN1C
Coffin-Lowry Syndrome RPS6KA3
Duane-radial ray Syndrome SALL4
Fragile X Syndrome FMR1
Nance-Horan Syndrome NHS
Peter’s Plus Syndrome B3GLCT
Roberts Syndrome ESCO2
Robinow Syndrome ROR2, WNT5A
Saethre-Chotzen Syndrome TWIST1
Short rib polydactyly type DYNC2H1
Simpson-Golabi-Behmel Syndrome GPC3
Sotos Syndrome NSD1
Townes-Brocks Syndrome SALL1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder CDK13
Microphthalmia, syndromic BCOR, STRA6
Axenfeld-Rieger Syndrome FOXC1, PITX2
Baraitser-Winter Syndrome ACTB, ACTG1
Congenital heart defects and skeletal malformations ABL1
Weill-Marchesani Syndrome ADAMTS10
CHOPS Syndrome AFF4
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis AMMECR1
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects B3GAT3
Pulmonary hypertension BMPR2
Sifrim-Hitz-Weiss Syndrome CHD4
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
Kleefstra Syndrome EHMT1
Pulmonary venoocclusive disease EIF2AK4
Hereditary hemorrhagic telangiectasia ENG
Cardiac valvular dysplasia FLNA
Alveolar capillary dysplasia with misalignment of pulmonary veins FOXF1
Au-Kline Syndrome HNRNPK
Athabaskan brainstem dysgenesis HOXA1
Cleft palate, cardiac defects, and mental retardation MEIS2
Feingold Syndrome MYCN
Cardiac-urogenital syndrome MYRF
Intellectual disability NONO
Congenital heart defects and ectodermal dysplasia PRKD1
Verheij Syndrome PUF60
Smith-Magenis Syndrome RAI1
TARP Syndrome RBM10
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart RERE
Mullegama-Klein-Martinez Syndrome STAG2
Catel-Manzke Syndrome TGDS
Intellectual developmental disorder with cardiac defects and dysmorphic facies TMEM94
Heterotaxy ACVR2B, ANKS6, CFAP53, FOXH1, GDF1, LEFTY2, MMP21, NKX2-5, NODAL, PKD1L1, ZIC3
Primary ciliary dyskinesia CCDC65, CCNO, DNAH1, DNAH6, DNAH8, DNAJB13, DRC1, MCIDAS, OFD1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9
Primary ciliary dyskinesia/Heterotaxy AK7, ODAD2/ARMC4, CCDC103, CDIN1/CCDC114, ODAD3/CCDC151, CCDC39, CCDC40, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, GAS8, INVS, LRRC6, NME8, DNAAF6/PIH1D3, SPAG1, ODAD4/TTC25, ZMYND10
Polycystic kidney disease GANAB, PKD1, PKD2, PKHD1
Nephronophthisis ANKS6, CEP164, CEP290, CEP83, DCDC2, GLIS2, IFT172, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423
Meckel-Gruber Syndrome MKS1, B9D1, B9D2, CC2D2A, CEP290, KIF14, NPHP3, RPGRIP1L, TCTN2, TMEM107, TMEM216, TMEM231, TMEM67
Joubert Syndrome AHI1, ARL13B, ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP290, CEP41, CEP41, CPLANE1, CSPP1, IFT172, INPP5E, KATNIP/KIAA0556, KIAA0586, KIAA0753, KIF7, MKS1, NPHP1, OFD1, PDE6B, PDE6D, PIBF1, POC1B, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
Bardet-Biedl Syndrome ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT172, IFT27, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP
Oral-facial-digital Syndrome C2CD3, CPLANE1, DDX59, IFT57, INTU, KIAA0753, OFD1, SCLT1, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM231, WDPCP
Alström Syndrome ALMS1
McKusick-Kaufman Syndrome MKKS
Ellis van Creveld Syndrome EVC, EVC2
Short rib thoracic dysplasia CEP120, DYNC2H1, DYNC2LI1, IFT140, IFT172, IFT52, IFT80, KIAA0586, NEK1, DYNLT2B/TCTEX1D2, TTC21B, WDR19, DYNC2I2/WDR34, WDR35, DYNC2I1/WDR60
Cranioectodermal dysplasia IFT122, IFT43, WDR19, WDR35
Carpenter Syndrome RAB23, MEGF8
Marfan Syndrome FBN1
Familial Thoracic Aortic Aneurysm ACTA2, MYH11, TGFBR2
Loeys-Dietz Syndrome SMAD3, TGFBR1, TGFBR2
Ehlers-Danlos Syndrome COL3A1, COL5A1, COL5A2
Congenital Contractural Arachnodactyly FBN2
Long QT Syndrome AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN
Brugada Syndrome ABCC9, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SLMAP, TRPM4
Short QT Syndrome CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1
Catecholaminergic Polymorphic Ventricular Tachycardia ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, KCNQ1, RYR2, SCN5A, TRDN
Atrial fibrillation GJA5
Cardiomyopathy (Dilated, Hypertrophic, Left ventricular noncompaction, Arrhythmogenic right ventricular cardiomyopathy) ABCC9, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CAV3, CDH2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FKTN, FLNC, GAA, GATAD1, GLA, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, PDLIM3, PKP2, PLN, PPCS, PRDM16, PRKAG2, PRKAR1A, PTPN11, RAF1, RBM20, RYR2, SCN5A, SCO2, SGCD, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Diamond-Blackfan Anemia GATA1, RPL5, RPS7, RPS10, RPL11, RPL15, RPS17, RPS19, RPS24, RPS26, RPL26, RPL35A
Fanconi Anemia BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2

For more information Pierpont et al. recently reviewed the genetics of congenital heart disease (Pierpont et al. 2018. PubMed ID: 30571578).

Clinical Sensitivity - Sequencing with CNV PGxome

The exact sensitivity of this panel is not known and will vary based on the disorder present in the patient. However, one study of copy number variation (CNV) in CHD using conventional karyotyping and chromosomal microarray (CMA) has found pathogenic CNVs in 14% of cases by karyotype and 24% by CMA (Turan et al. 2018. PubMed ID: 29306563). Studies using whole exome or genome sequencing have found pathogenic variants in 6-30% of cases (Blue et al. 2014. PubMed ID: 25500235; Jin et al. 2017. PubMed ID: 28991257; Hauser et al. 2018. PubMed ID: 29368431; Alankarage et al. 2019. PubMed ID: 30293987).

For CNV and genome/exome sequencing studies the yield in syndromic cases was significantly higher compared to isolated CHD. Pathogenic CNVs were found in 26% and 6% of cases in syndromic vs isolated CHDs, respectively (Turan et al. 2018. PubMed ID: 29306563). This same pattern was found in one genome sequencing study as pathogenic variants were found in 30% and 16% of cases in syndromic vs isolated CHDs, respectively (Alankarage et al. 2019. PubMed ID: 30293987).

Testing Strategy

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

This panel typically provides 99.2% 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. Some exons cannot be efficiently captured, and some genes cannot be accurately sequenced because of the presence of multiple copies in the genome (of special note NOTCH2 exons 1-4 cannot be captured). Therefore, a small fraction of sequence variants relevant to the patient's health may not be detected.

Exome wide CNV is included in this test to allow for detection of microdeletion/duplication syndromes associated with CHD.

The report will not include all the observed rare variants due to the large number of genes included in the comprehensive CHD panel. Pathogenic, Likely Pathogenic, and Variants of Uncertain Significance considered to contribute to the proband's phenotype will be reported. CNVs that are found to encompass all or part of a gene(s) that is known or possibly associated with the patient’s phenotype will also be reported. A list of all rare variants included in this panel is available along with our interpretations upon request.

Reports will consist of two different sections:

  • Variants in genes known to be associated with the provided phenotype
  • Variants in genes possibly associated with the provided phenotype

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

All patients with isolated or syndromic congenital heart defects are candidates for testing.

Genes

Official Gene Symbol OMIM ID
ABCC9 601439
ABL1 189980
ACTA2 102620
ACTB 102630
ACTC1 102540
ACTG1 102560
ACTN2 102573
ACVR1 102576
ACVR2B 602730
ADAMTS10 608990
AFF4 604417
AHI1 608894
AK7 615364
AKAP9 604001
ALMS1 606844
AMMECR1 300195
ANK2 106410
ANKRD1 609599
ANKS6 615370
ARHGAP31 610911
ARID1A 603024
ARID1B 614556
ARL13B 608922
ARL6 608845
B3GAT3 606374
B3GLCT 610308
B9D1 614144
B9D2 611951
BAG3 603883
BBIP1 613605
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BCOR 300485
BMPR2 600799
BRAF 164757
BRCA1 113705
BRCA2 600185
BRIP1 605882
C2CD3 615944
CACNA1C 114205
CACNA2D1 114204
CACNB2 600003
CALM1 114180
CALM2 114182
CALM3 114183
CASQ2 114251
CAV3 601253
CBL 165360
CC2D2A 612013
CCDC103 614677
CCDC39 613798
CCDC40 613799
CCDC65 611088
CCNO 607752
CDH2 114020
CDK13 603309
CDKN1C 600856
CEP104 616690
CEP120 613446
CEP164 614848
CEP290 610142
CEP41 610523
CEP83 615847
CFAP298 615494
CFAP53 614759
CHD4 603277
CHD7 608892
CITED2 602937
COL3A1 120180
COL5A1 120215
COL5A2 120190
CREBBP 600140
CRELD1 607170
CRYAB 123590
CSPP1 611654
CSRP3 600824
CTNNA3 607667
DCDC2 605755
DCHS1 603057
DDX59 615464
DES 125660
DHCR7 602858
DLL4 605185
DMD 300377
DNAAF1 613190
DNAAF11 614930
DNAAF2 612517
DNAAF3 614566
DNAAF4 608706
DNAAF5 614864
DNAAF6 300933
DNAH1 603332
DNAH11 603339
DNAH5 603335
DNAH6 603336
DNAH8 603337
DNAI1 604366
DNAI2 605483
DNAJB13 610263
DNAL1 610062
DOCK6 614194
DOLK 610746
DRC1 615288
DSC2 125645
DSG2 125671
DSP 125647
DTNA 601239
DYNC2H1 603297
DYNC2I1 615462
DYNC2I2 613363
DYNC2LI1 617083
DYNLT2B 617353
EFTUD2 603892
EHMT1 607001
EIF2AK4 609280
ELN 130160
EMD 300384
ENG 131195
EOGT 614789
EP300 602700
ERCC4 133520
ESCO2 609353
EVC 604831
EVC2 607261
EYA4 603550
FANCA 607139
FANCB 300515
FANCC 613899
FANCD2 613984
FANCE 613976
FANCF 613897
FANCG 602956
FANCI 611360
FANCL 608111
FANCM 609644
FBN1 134797
FBN2 612570
FHL1 300163
FHL2 602633
FKTN 607440
FLNA 300017
FLNC 102565
FLT4 136352
FOXC1 601090
FOXF1 601089
FOXH1 603621
GAA 606800
GANAB 104160
GAS8 605178
GATA1 305371
GATA4 600576
GATA5 611496
GATA6 601656
GATAD1 614518
GDF1 602880
GJA1 121014
GJA5 121013
GLA 300644
GLIS2 608539
GPC3 300037
GPD1L 611778
HAND1 602406
HAND2 602407
HCN4 605206
HDAC8 300269
HNRNPK 600712
HOXA1 142955
HRAS 190020
IFT122 606045
IFT140 614620
IFT172 607386
IFT27 615870
IFT43 614068
IFT52 617094
IFT57 606621
IFT80 611177
ILK 602366
INPP5E 613037
INTU 610621
INVS 243305
IQCB1 609237
JAG1 601920
JPH2 605267
JUP 173325
KAT6B 605880
KATNIP 616650
KCND3 605411
KCNE1 176261
KCNE2 603796
KCNE3 604433
KCNE5 300328
KCNH2 152427
KCNJ2 600681
KCNJ5 600734
KCNJ8 600935
KCNQ1 607542
KDM6A 300128
KIAA0586 610178
KIAA0753 617112
KIF14 611279
KIF7 611254
KMT2D 602113
KRAS 190070
LAMA4 600133
LAMP2 309060
LDB3 605906
LEFTY2 601877
LMNA 150330
LZTFL1 606568
LZTR1 600574
MAD2L2 604094
MAP2K1 176872
MAP2K2 601263
MCIDAS 614086
MCTP2 616297
MED13L 608771
MEGF8 604267
MEIS2 601740
MIB1 608677
MKKS 604896
MKS1 609883
MMP21 608416
MRAS 608435
MYBPC3 600958
MYCN 164840
MYH11 160745
MYH6 160710
MYH7 160760
MYL2 160781
MYL3 160790
MYLK2 606566
MYOZ2 605602
MYPN 608517
MYRF 608329
NEBL 605491
NEK1 604588
NEK8 609799
NEXN 613121
NF1 613113
NHS 300457
NIPBL 608667
NKX2-5 600584
NKX2-6 611770
NME8 607421
NODAL 601265
NONO 300084
NOTCH1 190198
NOTCH2 600275
NPHP1 607100
NPHP3 608002
NPHP4 607215
NR2F2 107773
NRAS 164790
NSD1 606681
ODAD1 615038
ODAD2 615408
ODAD3 615956
ODAD4 617095
OFD1 300170
PALB2 610355
PDE6B 180072
PDE6D 602676
PDGFRA 173490
PDLIM3 605889
PIBF1 607532
PITX2 601542
PKD1L1 609721
PKHD1 606702
PKP2 602861
PLN 172405
POC1B 614784
PPCS 609853
PPP1CB 600590
PRDM16 605557
PRDM6 616982
PRKAG2 602743
PRKAR1A 188830
PRKD1 605435
PTPN11 176876
PUF60 604819
RAB23 606144
RAD51 179617
RAD51C 602774
RAF1 164760
RAI1 607642
RANGRF 607954
RASA2 601589
RBM10 300080
RBM20 613171
RBPJ 147183
RECQL4 603780
RERE 605226
RFWD3 614151
RIT1 609591
ROR2 602337
RPGRIP1L 610937
RPL11 604175
RPL15 604174
RPL26 603704
RPL35A 180468
RPL5 603634
RPS10 603632
RPS17 180472
RPS19 603474
RPS24 602412
RPS26 603701
RPS6KA3 300075
RPS7 603658
RRAS 165090
RRAS2 600098
RSPH1 609314
RSPH3 615876
RSPH4A 612647
RSPH9 612648
RYR2 180902
SALL1 602218
SALL4 607343
SCLT1 611399
SCN10A 604427
SCN1B 600235
SCN2B 601327
SCN3B 608214
SCN4B 608256
SCN5A 600163
SCO2 604272
SDCCAG8 613524
SGCD 601411
SHOC2 602775
SLMAP 602701
SLX4 613278
SMAD3 603109
SMAD6 602931
SMARCA4 603254
SMARCB1 601607
SMARCE1 603111
SMC1A 300040
SMC3 606062
SNTA1 601017
SOS1 182530
SOS2 601247
SPAG1 603395
STAG2 300826
STRA6 610745
TAB2 605101
TAFAZZIN 300394
TBX1 602054
TBX20 606061
TBX5 601620
TCAP 604488
TCTN1 609863
TCTN2 613846
TCTN3 613847
TFAP2B 601601
TGDS 616146
TGFB3 190230
TGFBR1 190181
TGFBR2 190182
TLL1 606742
TMEM107 616183
TMEM138 614459
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM43 612048
TMEM67 609884
TMEM94 618163
TMPO 188380
TNNC1 191040
TNNI3 191044
TNNT2 191045
TPM1 191010
TRDN 603283
TRIM32 602290
TRPM4 606936
TTC21B 612014
TTC8 608132
TTN 188840
TTR 176300
TWIST1 601622
TXNRD2 606448
UBE2T 610538
VCL 193065
WDPCP 613580
WDR19 608151
WDR35 613602
WNT5A 164975
XRCC2 600375
ZEB2 605802
ZFPM2 603693
ZIC3 300265
ZMYND10 607070
ZNF423 604557
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
46XY Sex Reversal 9 AD 616067
Acrocallosal Syndrome, Schinzel Type AR 200990
Acrodysostosis AD 101800
Acromicric Dysplasia AD 102370
Adams-Oliver Syndrome 1 AD 100300
Adams-Oliver Syndrome 2 AR 614219
Adams-Oliver Syndrome 3 AD 614814
Adams-Oliver Syndrome 4 AR 615297
Adams-Oliver Syndrome 5 AD 616028
Adams-Oliver Syndrome 6 AD 616589
Adolescent Nephronophthisis AR 604387
Al-Gazali-Bakalinova syndrome AR 607131
Alagille Syndrome 1 AD 118450
Alagille Syndrome 2 AD 610205
Alpha-B Crystallinopathy AD 608810
Alstrom Syndrome AR 203800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins AD 265380
Aml - Acute Myeloid Leukemia 601626
Amyloidogenic Transthyretin Amyloidosis AD 105210
Amyotrophic lateral sclerosis, susceptibility to, 24 AD 617892
Andersen Tawil Syndrome AD 170390
Aortic Aneurysm, Familial Thoracic 4 AD 132900
Aortic Aneurysm, Familial Thoracic 6 AD 611788
Aortic valve disease 2 AD 614823
Aortic Valve Disorder AD 109730
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 AD 107970
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 AD 610193
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 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
Arteriovenous Malformations Of The Brain 108010
Athabaskan Brainstem Dysgenesis 601536
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 611493
Atrial Fibrillation, Familial, 9 AD 613980
Atrial Myxoma, Familial AD 255960
Atrial Septal Defect 2 AD 607941
Atrial Septal Defect 3 614089
Atrial Septal Defect 4 611363
Atrial Septal Defect 5 AD 612794
Atrial Septal Defect 6 AD 613087
Atrial septal defect 8 AD 614433
Atrial septal defect 9 AD 614475
Atrial Septal Defect With Atrioventricular Conduction Defects AD 108900
Atrial standstill, digenic (GJA5/SCN5A) AD 108770
Atrioventricular Septal Defect AD 600309
Atrioventricular Septal Defect 2 AD 606217
Atrioventricular Septal Defect 4 AD 614430
Atrioventricular septal defect 5 AD 614474
Au-Kline syndrome AD 616580
Axenfeld-Rieger Syndrome Type 3 AD 602482
Axenfeld-Rieger syndrome, type 1 AD 180500
Baller-Gerold Syndrome AR 218600
Baraitser-Winter Syndrome 1 AD 243310
Baraitser-Winter Syndrome 2 AD 614583
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bardet-Biedl Syndrome 18 AR 615995
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 8 AR 615985
Bardet-Biedl Syndrome 9 AR 615986
Becker Muscular Dystrophy XL 300376
Beckwith-Wiedemann Syndrome AD 130650
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy AD 181350
Bladder Cancer 109800
Brachydactyly, Type B1 AD 113000
Breast-Ovarian Cancer, Familial 1 MF 604370
Breast-Ovarian Cancer, Familial 2 AD 612555
Breast-Ovarian Cancer, Familial 3 613399
Brugada Syndrome 1 AD 601144
Brugada Syndrome 2 611777
Brugada Syndrome 3 611875
Brugada Syndrome 4 611876
Brugada Syndrome 5 612838
Brugada Syndrome 6 613119
Brugada Syndrome 7 AD 613120
Brugada Syndrome 8 613123
Brugada Syndrome 9 AD 616399
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cardiac-urogenital syndrome AD 618280
Cardio-Facio-Cutaneous Syndrome AD 115150
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cardiofaciocutaneous syndrome 2 615278
Cardiofaciocutaneous syndrome 3 615279
Cardiofaciocutaneous syndrome 4 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, 1NN AD 615916
Cardiomyopathy, Dilated, 2B AR 614672
Cardiomyopathy, dilated, 2C AR 618189
Cardiomyopathy, Dilated, 3B XL 302045
Cardiomyopathy, familial hypertrophic 26
Cardiomyopathy, Familial Hypertrophic, 17 AD 613873
Cardiomyopathy, familial restrictive 5 AD 617047
Cardiomyopathy, Familial Restrictive, 1 AD 115210
Cardiomyopathy, Familial Restrictive, 3 AD 612422
Carney Complex, Type 1 AD 160980
Carpal Tunnel Syndrome AD 115430
Carpenter Syndrome AR 201000
Carpenter Syndrome 2 AR 614976
Cataract 16 AR 613763
Cataract, Congenital, X-Linked XL 302200
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 AD 604772
Catecholaminergic Polymorphic Ventricular Tachycardia, 4 AD 614916
Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness AR 615441
Catel-Manzke Syndrome AR 616145
Char Syndrome AD 169100
Charcot-Marie-Tooth Disease Type 2B1 AR 605588
CHARGE Association AD 214800
CHOPS Syndrome AD 616368
Chromosome 9Q Deletion Syndrome AD 610253
Chronic Myeloid Leukemia 608232
Ciliary Dyskinesia, Primary, 1 AR 244400
Ciliary Dyskinesia, Primary, 10 612518
Ciliary Dyskinesia, Primary, 11 612649
Ciliary Dyskinesia, Primary, 12 612650
Ciliary Dyskinesia, Primary, 13 AR 613193
Ciliary Dyskinesia, Primary, 14 613807
Ciliary Dyskinesia, Primary, 15 613808
Ciliary Dyskinesia, Primary, 16 AR 614017
Ciliary Dyskinesia, Primary, 17 AR 614679
Ciliary Dyskinesia, Primary, 18 AR 614874
Ciliary Dyskinesia, Primary, 19 AR 614935
Ciliary Dyskinesia, Primary, 2 AR 606763
Ciliary Dyskinesia, Primary, 20 AR 615067
Ciliary Dyskinesia, Primary, 21 AR 615294
Ciliary Dyskinesia, Primary, 22 AR 615444
Ciliary Dyskinesia, Primary, 23 AR 615451
Ciliary Dyskinesia, Primary, 24 AR 615481
Ciliary Dyskinesia, Primary, 25 AR 615482
Ciliary Dyskinesia, Primary, 26 AR 615500
Ciliary Dyskinesia, Primary, 27 AR 615504
Ciliary Dyskinesia, Primary, 28 AR 615505
Ciliary Dyskinesia, primary, 29 AR 615872
Ciliary Dyskinesia, Primary, 3 608644
Ciliary Dyskinesia, Primary, 30 AR 616037
Ciliary Dyskinesia, Primary, 32 AR 616481
Ciliary Dyskinesia, Primary, 33 AR 616726
Ciliary Dyskinesia, Primary, 34 AR 617091
Ciliary Dyskinesia, Primary, 35 AR 617092
Ciliary Dyskinesia, Primary, 37 AR 617577
Ciliary dyskinesia, primary, 42 AR 618695
Ciliary Dyskinesia, Primary, 6 AR 610852
Ciliary Dyskinesia, Primary, 7 AR 611884
Ciliary Dyskinesia, Primary, 9 612444
Cleft palate, cardiac defects, and mental retardation AD 600987
COACH Syndrome AR 216360
Coffin-Lowry Syndrome XL 303600
Coffin-Siris Syndrome 1 AD 135900
Coffin-Siris Syndrome 2 AD 614607
Coffin-Siris Syndrome 3 AD 614608
Coffin-Siris Syndrome 4 AD 614609
Coffin-Siris Syndrome 5 AD 616938
Complete Trisomy 21 Syndrome 190685
Cone-Rod Dystrophy 20 AR 615973
Congenital Contractural Arachnodactyly AD 121050
Congenital Disorder Of Glycosylation Type 1M AR 610768
Congenital heart defects and ectodermal dysplasia AD 617364
Congenital heart defects and skeletal malformations syndrome AD 617602
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder AD 617360
Congenital heart defects, hamartomas of tongue, and polysyndactyly AR 217085
Congenital heart defects, multiple types, 4 AD 615779
Congenital heart defects, multiple types, 5 AR 617912
Congenital heart defects, nonsyndromic, 2 AD 614980
Conotruncal Heart Malformations 217095
Cornelia de Lange syndrome 1 AD 122470
Cornelia de Lange syndrome 2 XL 300590
Cornelia de Lange syndrome 3 AD 610759
Cornelia de Lange syndrome 5 XL 300882
Costello Syndrome AD 218040
Cranioectodermal Dysplasia AR 218330
Cranioectodermal Dysplasia 2 AR 613610
Cranioectodermal Dysplasia 3 AR 614099
Cranioectodermal Dysplasia 4 AR 614378
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Craniosynostosis 7, susceptibility to AD 617439
Craniosynostosis, Type 1 AD 123100
Creatine Phosphokinase, Elevated Serum AD 123320
Cutis Laxa, Autosomal Dominant AD 123700
Danon Disease XL 300257
Deafness, Autosomal Dominant 10 AD 601316
Deafness, Autosomal Dominant 20 AD 604717
Deafness, autosomal recessive 66 AR 610212
Deafness, congenital heart defects, and posterior embryotoxon 617992
Diamond-Blackfan Anemia 1 AD 105650
Diamond-Blackfan Anemia 10 AD 613309
Diamond-Blackfan Anemia 11 AD 614900
Diamond-Blackfan Anemia 12 AD 615550
Diamond-Blackfan Anemia 3 AD 610629
Diamond-Blackfan Anemia 4 AD 612527
Diamond-Blackfan Anemia 5 AD 612528
Diamond-Blackfan Anemia 6 AD 612561
Diamond-Blackfan Anemia 7 AD 612562
Diamond-Blackfan Anemia 8 AD 612563
Diamond-Blackfan Anemia 9 AD 613308
Diaphragmatic Hernia 3 610187
Digeorge Sequence AD 188400
Dilated Cardiomyopathy 1A AD 115200
Dilated Cardiomyopathy 1Aa AD 612158
Dilated Cardiomyopathy 1BB 612877
Dilated Cardiomyopathy 1C AD 601493
Dilated Cardiomyopathy 1CC AD 613122
Dilated Cardiomyopathy 1D AD 601494
Dilated Cardiomyopathy 1DD AD 613172
Dilated Cardiomyopathy 1E AD 601154
Dilated Cardiomyopathy 1Ee 613252
Dilated Cardiomyopathy 1FF 613286
Dilated Cardiomyopathy 1G 604145
Dilated Cardiomyopathy 1I AD 604765
Dilated Cardiomyopathy 1J AD 605362
Dilated Cardiomyopathy 1L 606685
Dilated Cardiomyopathy 1M 607482
Dilated Cardiomyopathy 1N AD 607487
Dilated Cardiomyopathy 1O 608569
Dilated Cardiomyopathy 1P 609909
Dilated Cardiomyopathy 1R AD 613424
Dilated Cardiomyopathy 1S AD 613426
Dilated Cardiomyopathy 1W 611407
Dilated Cardiomyopathy 1X AR 611615
Dilated Cardiomyopathy 1Y AD 611878
Dilated Cardiomyopathy 1Z 611879
Dilated Cardiomyopathy 2A AR 611880
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis AD 615821
Distal Myopathy Markesbery-Griggs Type AD 600334
Duane-Radial Ray Syndrome AD 607323
Duchenne Muscular Dystrophy XL 310200
Dyslexia 1 AD 127700
Dystransthyretinemic Euthyroidal Hyperthyroxinemia AD 145680
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
Ehlers-Danlos Syndrome, Type 1 AD 130000
Ehlers-Danlos Syndrome, Type 2 AD 130010
Ehlers-Danlos Syndrome, Type 4 AD 130050
Ellis-van Creveld Syndrome AR 225500
Emery-Dreifuss Muscular Dystrophy 1, X-Linked XL 310300
Emery-Dreifuss muscular dystrophy 3, AR AR 616516
Emery-Dreifuss Muscular Dystrophy 7, AD AD 614302
Emery-Dreifuss muscular dystrophy-6 XL 300696
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization AD 618113
Epidermal Nevus 162900
Epidermolysis Bullosa, Lethal Acantholytic AR 609638
Epileptic encephalopathy, early infantile, 52 AR 617350
Episodic Pain Syndrome, Familial, 2 AD 615551
Erythrokeratodermia variabilis et progressiva 3 AD 617525
Erythrokeratodermia veriabilis et progressiva 6 AD 618531
Esophageal Cancer 133239
Fabry's Disease XL 301500
Fallot Tetralogy AD 187500
Familial Cancer Of Breast 114480
Familial Colorectal Cancer 114500
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 15 AD 613255
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 3 AD 115196
Familial Hypertrophic Cardiomyopathy 4 AR 115197
Familial Hypertrophic Cardiomyopathy 6 AD 600858
Familial Hypertrophic Cardiomyopathy 7 AD 613690
Familial Hypertrophic Cardiomyopathy 8 AR 608751
Familial Hypertrophic Cardiomyopathy 9 AD 613765
Fanconi Anemia, Complementation Group A AR 227650
Fanconi Anemia, Complementation Group B XL 300514
Fanconi Anemia, Complementation Group C AR 227645
Fanconi Anemia, Complementation Group D1 AR 605724
Fanconi Anemia, Complementation Group D2 AR 227646
Fanconi Anemia, Complementation Group E AR 600901
Fanconi Anemia, Complementation Group F 603467
Fanconi Anemia, Complementation Group G 614082
Fanconi Anemia, Complementation Group I AR 609053
Fanconi Anemia, Complementation Group J 609054
Fanconi Anemia, Complementation Group L AR 614083
Fanconi Anemia, Complementation Group N 610832
Fanconi Anemia, Complementation Group O AR 613390
Fanconi Anemia, Complementation Group P AR 613951
Fanconi anemia, Complementation Group Q AR 615272
Fanconi Anemia, Complementation Group R AD 617244
Fanconi Anemia, Complementation Group S AR 617883
Fanconi Anemia, Complementation Group T AR 616435
Fanconi Anemia, Complementation Group U AR 617247
Fanconi Anemia, Complementation Group V AR 617243
Fanconi Anemia, Complementation Group W AR 617784
Feingold Syndrome 1 AD 164280
FG Syndrome 2 XL 300321
Fibrodysplasia Ossificans Progressiva AD 135100
Frontometaphyseal Dysplasia XL 305620
Fukuyama Congenital Muscular Dystrophy AR 253800
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial 175510
GATA-1-Related Thrombocytopenia With Dyserythropoiesis XL 300367
Geleophysic Dysplasia 2 AD 614185
Generalized Epilepsy With Febrile Seizures Plus, Type 1 AD 604233
Genitopatellar Syndrome AD 606170
Glioma Susceptibility 3 AR 613029
Glucocorticoid deficiency 5 AR 617825
Glycogen Storage Disease Of Heart, Lethal Congenital AD 261740
Glycogen Storage Disease Type II AR 232300
Hajdu-Cheney Syndrome AD 102500
Heart-Hand Syndrome, Slovenian Type AD 610140
Hemangioma, Capillary Infantile 602089
Hereditary Diffuse Gastric Cancer 137215
Hereditary Gingival Fibromatosis AD 135300
Hereditary Lymphedema Type I AD 153100
Hereditary Myopathy With Early Respiratory Failure AD 603689
Hereditary Nonpolyposis Colorectal Cancer Type 6 614331
Heterotaxy, Visceral, 4, Autosomal 613751
Heterotaxy, Visceral, 5 AD 270100
Heterotaxy, visceral, 6, autosomal recessive AR 614779
Heterotaxy, Visceral, 7, Autosomal AR 616749
Heterotaxy, visceral, 8, autosomal AR 617205
Heterotaxy, Visceral, X-Linked XL 306955
Holt-Oram Syndrome AD 142900
Hutchinson-Gilford Syndrome AR 176670
Hydrolethalus Syndrome 2 AR 614120
Hyperaldosteronism, Familial, Type III AD 613677
Hypertrichotic Osteochondrodysplasia AD 239850
Hypoplastic Left Heart Syndrome AR 241550
Hypoplastic Left Heart Syndrome 2 AD 614435
Hypothyroidism, Congenital, Nongoitrous, 5 AD 225250
Idiopathic Hypereosinophilic Syndrome 607685
IMAGE Syndrome AD 614732
Infantile Nephronophthisis AR 602088
Intellectual developmental disorder with cardiac defects and dysmorphic facies AR 618316
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Iridogoniodysgenesis Type1 AD 601631
Iridogoniodysgenesis, Dominant Type AD 137600
Ivic Syndrome AD 147750
Jervell And Lange-Nielsen Syndrome 2 AR 612347
Jervell And Lange-Nielson Syndrome AR 220400
Joubert Syndrome 1 AR 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 15 AR 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert syndrome 19 AR 614844
Joubert Syndrome 2 AR 608091
Joubert syndrome 20 AR 614970
Joubert Syndrome 21 AR 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 23 AR 616490
Joubert Syndrome 24 AR 616654
Joubert Syndrome 25 AR 616781
Joubert Syndrome 26 AR 616784
Joubert Syndrome 27 AR 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 AR 608629
Joubert Syndrome 31 AR 617761
Joubert Syndrome 33 AR 617767
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Juvenile Myelomonocytic Leukemia 607785
Juvenile-Onset Dystonia AD 607371
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 5 AD 612370
Keratosis Palmoplantaris Striata II AD 612908
Leber Congenital Amaurosis 10 611755
Left Ventricular Noncompaction 1 AD 604169
Left ventricular noncompaction 10 AD 615396
Left Ventricular Noncompaction 7 AD 615092
Left Ventricular Noncompaction 8 AD 615373
LEOPARD Syndrome AD 151100
LEOPARD Syndrome 2 611554
LEOPARD Syndrome 3 AD 613707
Limb-Girdle Muscular Dystrophy, Type 2F AR 601287
Limb-Girdle Muscular Dystrophy, Type 2G AR 601954
Limb-Girdle Muscular Dystrophy, Type 2H AR 254110
Lipodystrophy, Familial Partial, Type 2 AD 151660
Loeys-Dietz Syndrome 1 AD 609192
Loeys-Dietz Syndrome 2 AD 610168
Loeys-Dietz Syndrome 3 AD 613795
Loeys-Dietz Syndrome 5 AD 615582
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 8 618447
Long QT Syndrome 9 AD 611818
Lung Cancer 211980
Macular Degeneration, Early-Onset AD 616118
Malouf Syndrome AD 212112
Mandibuloacral Dysplasia With Type A Lipodystrophy AR 248370
Mandibulofacial dysostosis, Guion-Almeida type AD 610536
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Mass Syndrome AD 604308
Mckusick Kaufman Syndrome AR 236700
Meckel Syndrome 1 AR 249000
Meckel Syndrome 10 AR 614175
Meckel syndrome 11 AR 615397
Meckel Syndrome 12 AR 616258
Meckel Syndrome 13 AR 617562
Meckel Syndrome 2 AR 603194
Meckel Syndrome 3 AR 607361
Meckel Syndrome 4 AR 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meckel Syndrome 7 AR 267010
Meckel Syndrome 8 AR 613885
Meckel Syndrome 9 AR 614209
Medulloblastoma 155255
Melnick-Needles Syndrome XL 309350
Meningioma, Familial 607174
Menke-Hennekam syndrome 1 618332
Menke-Hennekam syndrome 2 618333
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects AD 616789
Mental Retardation, X-Linked 19 XL 300844
Mental Retardation, X-linked, Syndromic 34 XL 300967
Metachondromatosis AD 156250
Microcephaly 20, primary, autosomal recessive AR 617914
Microphthalmia Syndromic 9 AR 601186
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis XL 300990
Mirror movements 2 AD 614508
Mitral valve prolapse 2 AD 607829
MORM Syndrome AR 610156
Mowat-Wilson Syndrome AD 235730
Moyamoya Disease 5 614042
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects AR 245600
Multiple Self Healing Squamous Epithelioma AD 132800
Multisystemic Smooth Muscle Dysfunction Syndrome AD 613834
Muscular Dystrophy, Congenital, LMNA-Related AD 613205
Muscular Dystrophy, Limb-Girdle, Type 2J AR 608807
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 AR 613152
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 AR 611588
Myofibrillar Myopathy, BAG3-Related AD 612954
Myofibrillar Myopathy, Desmin-Related AR 601419
Myofibrillar Myopathy, Filamin C-Related AD 609524
Myofibrillar Myopathy, ZASP-Related AD 609452
Myopathy, congenital with structured cores and Z-line abnormalities AD 618654
Myopathy, Distal, 1 AD 160500
Myopathy, Distal, 4 AD 614065
Myopathy, distal, 6, adult onset AD 618655
Myopathy, Distal, Tateyama Type AD 614321
Myopathy, Early-Onset, With Fatal Cardiomyopathy AR 611705
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related AR 613869
Myopathy, Myosin Storage AD 608358
Myopathy, Myosin Storage, Autosomal Recessive AR 255160
Myopathy, Reducing Body, X-Linked, Childhood-Onset XL 300718
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe XL 300717
Myopathy, X-Linked, With Postural Muscle Atrophy XL 300696
Myopia 6 AD 608908
Nance-Horan Syndrome XL 302350
Naxos Disease AR 601214
Nemaline myopathy 11, autosomal recessive AR 617336
Nephronophthisis AR 256100
Nephronophthisis 11 AR 613550
Nephronophthisis 12 AR 613820
Nephronophthisis 13 AR 614377
Nephronophthisis 14 AR 614844
Nephronophthisis 15 AR 614845
Nephronophthisis 16 AR 615382
Nephronophthisis 18 AR 615862
Nephronophthisis 19 AR 616217
Nephronophthisis 4 AR 606966
Nephronophthisis 7 611498
Nephronophthisis 9 613824
Neurocutaneous melanosis, somatic 249400
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart AD 616975
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities XL 301022
Neurofibromatosis, Familial Spinal AD 162210
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis-Noonan Syndrome AD 601321
Night Blindness, Congenital Stationary, Rambusch Type AD 163500
Noonan Syndrome 1 AD 163950
Noonan Syndrome 10 AD 616564
Noonan syndrome 11 AD 618499
Noonan syndrome 12 AD 618624
Noonan syndrome 2 AR 605275
Noonan Syndrome 3 AD 609942
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
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculoectodermal syndrome, somatic 600268
Oculofaciocardiodental Syndrome XL 300166
Oral-Facial-Digital Syndrome XL 311200
Orofaciodigital Syndrome IV AR 258860
Orofaciodigital Syndrome V AR 174300
Orofaciodigital Syndrome XIV AR 615948
Orofaciodigital syndrome XV AR 617127
Orofaciodigital Syndrome XVI AR 617563
Orofaciodigital syndrome XVII AR 617926
Orofaciodigital syndrome XVIII AR 617927
Osler Hemorrhagic Telangiectasia Syndrome AD 187300
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Palmoplantar keratoderma with congenital alopecia AD 104100
Pancreatic agenesis and congenital heart defects AD 600001
Pancreatic Cancer 260350
Pancreatic Cancer 2 613347
Pancreatic Cancer 3 613348
Pancreatic Cancer 4 614320
Paroxysmal Familial Ventricular Fibrillation 603829
Patent ductus arteriosus 2 AD 617035
Patent ductus arteriosus 3 AD 617039
Peters Plus Syndrome AR 261540
Pigmented Nodular Adrenocortical Disease, Primary, 1 AD 610489
Polycyctic Kidney Disease 3 AD 600666
Polycystic Kidney Disease, Infantile Type AR 263200
Polymicrogyria with or without vascular-type EDS AR 618343
Premature ovarian failure 15 AR 618096
Progressive Familial Heart Block Type 1A AD 113900
Progressive Familial Heart Block Type 1B AD 604559
Prostate Cancer 176807
Pulmonary Arterial Hypertension AD 178600
Pulmonary Veno-Occlusive Disease AD 265450
Pulmonary venoocclusive disease 2 AR 234810
Rapadilino Syndrome AR 266280
RAS-Associated Autoimmune Leukoproliferative Disorder 614470
Renal Dysplasia And Retinal Aplasia AR 266900
Renal-Hepatic-Pancreatic Dysplasia AR 208540
Renal-hepatic-pancreatic dysplasia 2 AR 615415
Restrictive Dermopathy, Lethal AR 275210
Retinitis Pigmentosa 23 XL 300424
Retinitis Pigmentosa 40 AR 613801
Retinitis Pigmentosa 51 AR 613464
Retinitis Pigmentosa 55 613575
Retinitis Pigmentosa 71 AR 616394
Retinitis Pigmentosa 74 AR 616562
Retinitis pigmentosa 80 AR 617781
Retinitis Pigmentosa 81 AR 617871
Rhabdoid Tumor Predisposition Syndrome 1 609322
Rhabdoid Tumor Predisposition Syndrome 2 AD 613325
RHYNS syndrome AR 602152
Right atrial isomerism AR 208530
Ring Dermoid Of Cornea AD 180550
Rippling Muscle Disease AD 606072
Roberts Syndrome AR 268300
Roberts-SC Phocomelia Syndrome AR 269000
Robinow Syndrome AD 180700
Robinow Syndrome, Autosomal Recessive AR 268310
Robinow-Sorauf Syndrome AD 180750
Rothmund-Thomson Syndrome AR 268400
Rubinstein-Taybi Syndrome AD 180849
Rubinstein-Taybi Syndrome 2 AD 613684
Saethre-Chotzen Syndrome AD 101400
Scapuloperoneal Myopathy, Myh7-Related AD 181430
Scapuloperoneal Myopathy, X-Linked Dominant XL 300695
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type AD 181400
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Schwannomatosis 1 162091
Schwannomatosis 2 AD 615670
Sclerosing cholangitis, neonatal AR 617394
Senior-Loken Syndrome 4 AR 606996
Senior-Loken Syndrome 5 AR 609254
Senior-Loken Syndrome 6 AR 610189
Senior-Loken Syndrome 7 613615
Senior-Loken Syndrome 8 AR 616307
Short QT Syndrome 1 609620
Short QT Syndrome 2 AD 609621
Short QT Syndrome 3 609622
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly AR 615630
Short-Rib Thoracic Dysplasia 11 with or without Polydactyly AR 615633
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly AR 616300
Short-rib thoracic dysplasia 14 with polydactyly AR 616546
Short-rib thoracic dysplasia 15 with polydactyly AR 617088
Short-rib thoracic dysplasia 16 with or without polydactyly AR 617102
Short-rib thoracic dysplasia 17 with or without polydactyly AR 617405
Short-rib thoracic dysplasia 18 with polydactyly AR 617866
Short-Rib Thoracic Dysplasia 2 with or without Polydactyly AR 611263
Short-rib thoracic dysplasia 20 with polydactyly AR 617925
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly AR 613091
Short-Rib Thoracic Dysplasia 4 with or without Polydactyly AR 613819
Short-Rib Thoracic Dysplasia 5 with or without Polydactyly AR 614376
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly AR 263520
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Short-Rib Thoracic Dysplasia 8 with or without Polydactyly AR 615503
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly AR 266920
Sick Sinus Syndrome 1, Autosomal Recessive AR 608567
Sick Sinus Syndrome 2, Autosomal Dominant AD 163800
Sick Sinus Syndrome 3, Susceptibility To 614090
Sifrim-Hitz-Weiss Syndrome AD 617159
Simpson-Golabi-Behmel Syndrome XL 312870
Simpson-Golabi-Behmel Syndrome, Type 2 XL 300209
Skin Fragility Woolly Hair Syndrome AR 607655
Smith-Lemli-Opitz Syndrome AR 270400
Smith-Magenis Syndrome AD 182290
Sotos' Syndrome AD 117550
Spermatogenic failure 18 AR 617576
Spermatogenic failure 27 AR 617965
Spermatogenic failure 28 AR 618086
Spinocerebellar ataxia 19 AD 607346
Spitz nevus or nevus spilus, somatic 137550
Stiff Skin Syndrome AD 184900
Sudden Infant Death Syndrome AR 272120
Supravalvar Aortic Stenosis AD 185500
Sweeney-Cox syndrome AD 617746
Syndactyly Type 3 AD 186100
TARP Syndrome XL 311900
Terminal Osseous Dysplasia XL 300244
Testicular Anomalies with or without Congenital Heart Disease AD 615542
Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis XL 314050
Thyroid Cancer, Follicular 188470
Timothy Syndrome AD 601005
Townes-Brocks Syndrome AD 107480
Transposition Of Great Arteries AD 608808
Transposition Of The Great Arteries, Dextro-Looped 3 AD 613854
Uruguay faciocardiomusculoskeletal syndrome XL 300280
VACTERL Association With Hydrocephaly, X-Linked XL 314390
Van Maldergem Syndrome 1 AR 601390
Velocardiofacial Syndrome AD 192430
Ventricular Septal Defect 1 AD 614429
Ventricular septal defect 2 AD 614431
Ventricular Septal Defect 3 AD 614432
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 AR 611938
Verheij syndrome AD 615583
Watson Syndrome AD 193520
Weill-Marchesani Syndrome 1 AR 277600
Weill-Marchesani Syndrome 2 AD 608328
Weyers Acrofacial Dysostosis AD 193530
Wilms' Tumor 194070
Wolff-Parkinson-White Pattern AD 194200
X-Linked Anemia Without Thromobocytopenia XL 300835
X-Linked Periventricular Heterotopia XL 300049
Xeroderma Pigmentosum, Complementation Group F AR 278760
XFE Progeroid Syndrome AR 610965
Young Simpson Syndrome AD 603736

Related Test

Name
PGxome®

Citations

  • Alankarage et al. 2018. PubMed ID: 30293987
  • Blue et al. 2014. PubMed ID: 25500235
  • Hauser et al. 2018. PubMed ID: 29368431
  • Hoffman and Kaplan. 2002. PubMed ID: 12084585
  • Jin et al. 2017. PubMed ID: 28991257
  • Kuciene and Dulskiene. 2008. PubMed ID: 19124958
  • Pierpont et al. 2018. PubMed ID: 30571578
  • Turan et al. 2018. PubMed ID: 29306563
  • van der Linde et al. 2011. PubMed ID: 22078432

Ordering/Specimens

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  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

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PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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