| Panel name | Cardio expedited panel |
|---|---|
| Panel method | Wes-based NGS |
| Panel version ** | v1 |
| Panel quality *** | C |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Note | Only after telephone consultation. Please send material parents. |
| Location | Location AMC |
| Genes (13) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| CALM1 | C | ||||
| CALM2 | C | ||||
| CALM3 | C | ||||
| CASQ2 | C | ||||
| FLNC | C | ||||
| KCNH2 | C | Incl. CNV - MLPA P114 | |||
| KCNQ1 | C | Incl. CNV - MLPA P114 | |||
| LMNA | C | Incl. CNV - MLPA P048 | |||
| PKP2 | C | ||||
| PLN | C | ||||
| RYR2 | C | Incl. LF-PCR exon 3 | |||
| SCN5A | C | ||||
| TRDN | C |
| Indication(s) |
|---|
| Atrial fibrillation |
| Atrial standstill |
| Bradychardia |
| Brugada syndrome |
| Cardiac arrhythmia |
| Catecholaminergic polymorphic ventricular tachycardia CPVT |
| Conduction defects |
| Long QT syndrome LQT |
| Short QT syndrome |
| Sick sinus syndrome |
| Sudden cardiac death |
| Ventricular fibrillation |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C