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Cardio Genetics

 

DESCRIPTION – cardio vascular genetics is a rapidly evolving sub-specialty within cardiovascular medicine, and its growth is attributed to advances in genome sequencing and genetic testing and the expanding understanding of the genetic basis of multiple cardiac condition, including arrhythmias (channelopathies), heart failure

COMPONNETS congenital heart disease, cardiac, channel-o-pathies, long QT syndrome, short QT syndrome, burgada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction, familial hypercholesterolemia, arrhythmogenic right ventricular dysplasia

METHODOLOGY – next generation sequencing (NGS)

TURN AROUND TIME 28 days

PATIENT PREPARATION –

COLLECT – lavender (EDTA), pink (potassium EDTA), yellow (ACD solution A or B)

SPECIMEN PREPARATION – transfer 5 ml of whole blood or extracted DNA

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 72 hours; refrigerated: 1 week

UNACCEPTABLE CONDITION – serum or plasma or frozen specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory

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