Product Name

Application

Region

P065-Marfan-1

Marfan syndrome

FBN1 15q21.1, TGFBR2 3p22

P066-Marfan-2

Marfan syndrome

FBN1 15q21.1

P093-HHT/PPH1

Hemorrhagic telangiectasia, hereditary (HHT), Primary pulmonary hypertension (PPH1)

ENG 9q34.11, ACVRL1 12q13.3, BMPR2 2q33.1-2

P100-MYBPC3

Hypertrophic cardiomyopathy, familial

MYBPC3 11p11.2

P108-SCN5A

Brugada / long QT

SCN5A 3p22

P114-Long-QT

Congenital long QT syndrome (LQT)

KCNQ1 11p15.5, KCNH2 7q35

P130-CCM mix-1

Cerebral Cavernous Malformations (CCM)

CCM 7q21

P131-CCM mix-2

Cerebral Cavernous Malformations (CCM)

CCM 7q21

P148-TGFBR1-TGFBR2

Aortic aneurysm syndrome

TGFBR1 9q22, TGFBR2 3p22

P168-ARVC-PKP2

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)

DSP 6p24, PKP2 12q11.21

P180-Limb-2

Limb malformations, heart

SALL1 16q12, SALL4 20q13, TBX5 12q24

P184-JAG1

Alagille Syndrome (ALGS)

JAG1 20p12.2

P196-TNNT2-BAG3

Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy

TNNT2 1q32; BAG3 10q25

P234-GATA3 - GATA4

Cardiac septal defects

GATA4 8p23, GATA3 10p15

P311-CHD

Congenital Heart Disease (CHD)

GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25

P313-CREBBP

Rubinstein–Taybi syndrome (RSTS)

CREBBP 16p13.3

P333-EP300

Rubinstein–Taybi syndrome (RSTS)

EP300; 22q13.2

P350-CLCN1-KCNJ2

Myotonia congenita, Thomsen’s disease, Becker’s disease, Andersen-Tawil syndrome

CLCN1, KCNJ2

P409-RASA1

capillary malformations, Parkes Weber syndrome

RASA1 5q14.3

P418-MYH7

Hypertrophic cardiomyopathy

MYH7 14q11.2

P434-Heterotaxy

Heterotaxy syndrome

ZIC3 Xq26.3, CFC1 2q21.1, ACVR2B 3p22.2, NODAL 10q22.1

P456-EVC EVC2

Ellis-van Creveld syndrome

4p16.2