Carrier Screening

DESCRIPTION – carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorder. When it is done before or during pregnancy, it allows you to find out your chances of having a child with a genetic disorder

METHODOLOGY – next generation sequencing (NGS)

TURN AROUND TIME – 14-21 days

PATIENT PREPARATION –

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

SPECIMEN PREPARATION – transport 5 ml of whole blood

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 1 week; refrigerated: 1 month; frozen: 1 month

UNACCEPTABLE CONDITION – serum or plasma or frozen specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory