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Cardio expedited panel

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


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