Genetic testing offered by Familion/PGx Health

LQTS

LQTS subtypeGene
LQTS1KCHQ1
LQTS2KCNH2
LQTS3SCN5A
LQT5KCNE1
LQTSKCNE2

Brugada Syndrome

SCN5A

Hypertrophic Cardiomyopathy

GeneProtein
MYH7
TNNT2
TNNC1
MYL2
ACTC
MYBPC3
TNNI3
TPM1
MYL3

ARVC/ARVD

GeneProtein
DSPDesmoplakin
PKP2Plakophilin 2
DSG2Desmoglein 2
DSC2Desmocollin 2
TMEM43Transmembrane Protein 43

CPVT

GeneReceptorType
RYR2Ryanodine-2; encodes pore forming subunit of the cardiac calcium release channel. Autosomal dominant with incomplete penetrance. Present in 50-55% of CPVT patients.CPVT 1