Trisomy 21 / Down syndrome

DESCRIPTION – trisomy of chromosome number 1 causes down syndrome. Babies with down syndrome having 3 chromosomes at position 21.

METHODOLOGY – fluorescence in situ hybridization (FISH)

TURN AROUND TIME – 10 days

PATEINT PREPARATION –

COLLECT – non-diluted bone marrow aspirate or sodium heparin

SPECIMEN PREPARATION – 3-4 ml of bone marrow or peripheral blood in green top (sodium heparin) or lavender top (EDTA) tube

STORAGE/TRANSPORT TEMPERATURE – 2-8 degrees C (with cold pack) and transport within 72 hours

STABILITY – ambient: 48 hours; refrigerated: 48 hours

UNACCEPTABLE CONDITION – frozen and clotted specimens

MRP – 2800.00

SPECIAL INSTRUCTIONS – clinical history is mandatory