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Chromosomal Microarray

 

DESCRIPTION chromosomal microarray is a high resolution method for detecting copy number changes across the entire genome in a single assay and is sometime called a molecular karyotype

CLINICAL UTILITY – it is used to detect angelman syndrome, Williams syndrome, di-george syndrome and prader-willi syndrome

METHODOLOGY – next generation sequencing

TURN AROUND TIME – 14 days

PATIENT PREPARATION –

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

SPECIMEN PREPARATION – transfer 5 ml of whole blood or 1 micro-gram extracted DNA or 200 mg of product of conception

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 72 hours; refrigerated: 1 week

SPECIAL INSTRUCTIONS – clinical history is mandatory

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