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