Cardiovascular
Product NameApplicationRegion
P065-Marfan Syndrome-1CEimproved Marfan syndrome FBN1 15q21.1, TGFBR2 3p24.1
P066-Marfan Syndrome-2CEimproved 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
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