Cardiovascular panels

Cardiovascular panels

Sonic Genetics provides a number of gene panels for genetic testing in familial cardiovascular disorders. A panel is defined by the clinical features of a selected cardiovascular disorder or group of disorders in an affected patient. These panels are not suitable for determining the risk of cardiovascular disease in an unaffected person. Each panel is selected from a list of genes on the basis of the clinical presentations associated with the selected genes. Some genes may have multiple presentations and hence are listed in more than one panel.

Aortopathy Panel – $1,892

Also known as: Thoracic aortic aneurysm, Lois-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome type 4, EDS type 4.

Genes: ACTA2, ADAMTS10, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, FLNB, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2

Arrhythmogenic right ventricular cardiomyopathy panel – $1,664

Also known as: ARVC, arrhythmogenic right ventricular dysplasia

Genes: CTNNA3, DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR2, TGFB3, TMEM43

Brugada Syndrome – $1,892

Also known as: Brugada syndrome

Genes: ABCC9, CACNA1C, CACNA2D1, CACNB2, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4

Dilated cardiomyopathy panel – $1,892

Also known as: Dilated cardiomyopathy, DCM

Genes: ABCC9, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EYA4, FKTN, GATAD1, GLA, ILK, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEXN, PLN, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

Hypercholesterolaemia panel – $1,664

Also known as: Familial hypercholesterolaemia, familial combined hyperlipidaemia, sitosterolaemia

Genes: ANGPTL3, APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1

Hypertriglyceridaemia panel – $1,664

Also known as: Familial hypertriglyceridaemia

Genes: APOA5, APOC2, APOC3, GPD1, GPIHBP1, LMF1, LPL

Hypertrophic cardiomyopathy panel – $1,892

Also known as: Hypertrophic cardiomyopathy, HCM, HOCM

Genes: ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CSRP3, DES, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, SLC25A4, SOS1, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Long QTS panel – $1,892

Also known as: LQT syndrome, LQTS, Romano-Ward syndrome, Jervell Lange-Nielsen syndrome

Genes: AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4

Left ventricular non-compaction panel – $1,892

Also known as: Isolated ventricular non-compaction, LVNC

Genes: ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, NNT, PRDM16, SCN5A, TAZ, TNNI3, TNNT2, TPM1

Pulmonary hypertension panel – $1,664

Also known as: Familial hypertriglyceridaemia

Genes: ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNK3, SMAD4, SMAD9, TBX4

Vasculopathy panel – $1,664

Also known as: Hereditary haemorrhagic telangiectasia, aortic valve disease, polycystic kidney disease, tortuosity of retinal arteries, Adams-Oliver syndrome, cutis laxa, arterial tortuosity syndrome.

Genes: ACVRL1, COL4A1, EFEMP2, ENG, FLNA, GDF2, NOTCH1, PKD1, SLC2A10, SMAD4

The table below lists the genes and the panels in which they occur. For each gene, there is a link that takes you to an external site with more detailed information about that gene.

We have also indicated whether mutations in a gene can cause non-cardiac disease (and the body system involved), and whether these non-cardiac manifestations potentially start in childhood or adulthood. Please note that we have not indicated whether a gene has multiple cardiac manifestations; this information is available in the external link regarding each gene. This information may assist doctor and patient in considering the significance of incidental findings arising from a panel test.

Please note that, even if a mutation is identified in a specific gene, an associated non-cardiac disorder is not necessarily likely to occur or to be untreatable.

We provide this supplementary information in good faith, but recognise that our list is not comprehensive; we have included links to further information should this be sought. Clinicians should not rely solely on the summary we have provided.

 

 

 

Gene Non-cardiac disease in adults Non-cardiac disease in children Aortopathy ARVC Brugada DCM FHC FHTG HCM LQTS LVNC PulmHT Vasculopathy
ABCC9 bone * *
ACTA2 *
ACTC1 * * *
ACTN2 * *
ACVRL1 various various * *
ADAMTS10 various *
AKAP9 *
ALG10 *
ANK2 *
ANKRD1 * *
APOA5 *
APOB *
APOC2 *
APOC3 *
BAG3 muscle *
BMPR1B bone bone *
BMPR2 *
CACNA1C bone * *
CACNA2D1 *
CACNB2 *
CALM1 *
CALM2 *
CALR3 *
CAV1 *
CAV3 muscle muscle * *
CBS various various *
COL1A1 bone bone *
COL1A2 bone bone *
COL3A1 various various *
COL4A1 various various *
COL5A1 various various *
COL5A2 various various *
CRYAB eye; muscle eye; muscle *
CSRP3 * *
CTNNA3 *
DES muscle * * *
DMD muscle brain; muscle *
DSC2 * *
DSG2 * *
DSP skin * *
DTNA *
EFEMP2 various various * *
EIF2AK4 *
ELN skin skin *
ENG various various * *
EYA4 ear *
FBN1 various various *
FBN2 eye; bone eye; bone *
FHL1 muscle muscle *
FKTN muscle *
FLNA various various * *
GATAD1 *
GDF2 *
GLA various various * *
GPD1 *
GPD1L *
GPIHBP1 *
HCN4 *
ILK *
JPH2 *
JUP skin * *
KCND3 brain *
KCNE1 ear *
KCNE2 *
KCNE3 *
KCNE5 *
KCNH2 *
KCNJ2 various various *
KCNJ5 endocrine endocrine *
KCNJ8 *
KCNK3 *
KCNQ1 ear *
LAMA4 *
LAMP2 various various * *
LDB3 muscle * * *
LDLR *
LDLRAP1 *
LMF1 *
LMNA various various * * *
LPL *
MFAP5 *
MIB1 *
MYBPC3 * * *
MYH11 *
MYH6 * *
MYH7 muscle muscle * * *
MYL2 * *
MYL3 *
MYLK *
MYLK2 *
MYOZ2 *
MYPN * *
NEXN * *
NNT endocrine endocrine *
NOTCH1 bone * *
PCSK9 *
PKD1 renal renal *
PKP2 * *
PLN * *
PLOD1 various various *
PRDM16 * *
PRKAG2 various *
PRKG1 *
PSEN1 brain * *
PSEN2 brain * *
RAF1 various various *
RANGRF *
RBM20 * *
RPSA blood *
RYR2 *
SCN10A nerve *
SCN1B brain *
SCN2B *
SCN3B *
SCN4B *
SCN5A * * * * *
SDHA brain brain * *
SGCD muscle * *
SKI various various *
SLC25A4 muscle *
SLC2A10 * *
SLMAP *
SMAD3 various various *
SMAD4 various various * * *
SMAD9 *
SNTA1 *
STAP1 *
TAZ various * * *
TBX20 * *
TBX4 bone bone *
TCAP muscle * *
TGFB2 various various *
TGFB3 various *
TGFBR1 various *
TGFBR2 various *
TMEM43 muscle *
TMPO * *
TNNC1 * *
TNNI3 * * *
TNNT2 * * *
TPM1 * * *
TRPM4 * *
TTN muscle muscle * *
TTR various *
VCL * *
Totals 26 12 19 47 5 7 41 17 14 10 10