Monosomy 1

DESCRIPTION – diagnosis of a rare chromosomal disorder where deletion of a chromosome number 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.

METHODOLOGY – fluorescence in situ hybridization (FISH)

TURN AROUND TIME – 7 days

PATIENT PREPARATION –

COLLECT – non diluted bone marrow or sodium heparin

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

STORAGE/TRANSPORT TEMPERATURE – 2-8 degrees C (with cold pack)

STABILITY – ambient: 48 hours; refrigerated: 48 hours

UNACCEPTABLE CONDITIONS – clotted specimens

MRP – 2000.00

SPECIAL INSTRUCTIONS – clinical history is mandatory