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Nephrogenetics

 

DESCRIPTION – autosomal dominant polycystic kidney disease (ADPKD) is a progressive disease, which means the symptoms tend to get worse over time. ADPKD is the most common type of inherited kidney disease

METHODOLOGY – next generation sequencing (NGS)

TURN AROUND TIME – 3-6 weeks

PATIENT PREPARATION –

COLLECT – lavender (EDTA), pink (potassium EDTA)

SPECIMEN PREPARATION – transport 5 ml of whole blood

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 48 hours; refrigerated: 1 week

UNACCEPTABLE CONDITION – frozen specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory

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