| Panel name | Cardio expedited panel |
|---|---|
| Panel method | Sanger sequencing |
| Panel version ** | v1 |
| Panel quality *** | A |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Note | Only after telephone consultation. Please send material parents. |
| Location | Location AMC |
| Genes (6) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| KCNK2 | A | 100 | 100 | Incl. MLPA | |
| KCNQ1 | A | 100 | 100 | Incl MLPA | |
| LMNA | A | 100 | 100 | Incl. MLPA | |
| PLN | A | 100 | 100 | ||
| RYR2 | A | 100 | 100 | Incl LF-PCR exon 3 | |
| SCN5A | A | 100 | 100 |
| Indication(s) |
|---|
| Arrhythmogenic right ventricular dysplasia/cardiomyopathy ARVD/ARVC |
| Atrial fibrillation |
| Atrial standstill |
| Bradychardia |
| Brugada syndrome |
| Cardiac arrhythmia |
| Cardiomyopathy CM |
| Catecholaminergic polymorphic ventricular tachycardia CPVT |
| Conduction defects |
| Dilated cardiomyopathy DCM |
| Hypertrophic cardiomyopathy HCM |
| Long QT syndrome LQT |
| Non compaction cardiomyopathy NCCM |
| Restrictive cardiomyopathy RCM |
| 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