Table 3.
Current 4-gene molecular autopsy.
| Gene name | Encoded protein | Disease | % of disease | % of SADSa |
|---|---|---|---|---|
| KCNQ1 | IKs K+ channel α-subunit | LQTS1 | 35–40 | 10–15 |
| KCNH2 | IKr K+ channel α-subunit | LQTS2 | 30–35 | 1–5 |
| SCN5A | INa Na+ channel α-subunit | LQTS3 | 5–10 | <1 |
| BrS | 15–25 | <1 | ||
| RYR2 | Ryanodine receptor | CPVT1 | 60–65 | 10–20 |
LQTS=long QT syndrome, BrS=Brugada syndrome, CPVT1=catecholaminergic polymorphic ventricular tachycardia type 1, SADS=sudden arrhythmic death syndrome (normal postmortem).
a
Pick-up rate for molecular autopsy.