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Metabolic Genetics

 

DESCRIPTION – inherited metabolic disorders refer to different types of medical condition caused by genetic defects – most commonly inherited from both parents – that interfere with the body’s metabolism. These conditions may also be called inborn errors of metabolism

COMPONENT – aminoacidopathies, organic acidemias, fatty acid oxidation defects, primary lactic acidosis, urea cycle defects, disorders of carbohydrate, lysosomal storage disorder, peroxisomal disorders

METHODOLOGY – next generation sequence (NGS)

TURN AROUND TIME – 21 days

PATIENT PREPARATION –

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

SPECIMEN PREPARATION – transfer 5 ml of whole blood or 2 micro-gram extracted DNA

STORAGE/TRANSPORT SPECIMEN – refrigerated

STABILITY – ambient: 72 hours; refrigerated: 1 week

UNACCEPTABLE CONDITION frozen specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory

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