1p deletion

DESCRIPTION – 1p deletion is a chromosomal abnormality of chromosome number 1 as there is a deletion of short arm of chromosome 1

CLINICAL UTILITY – common symptoms include malformed ears, mental deficiency, short neck, bulbouse nose, heart defects, finger abnormalities and small deeply set eyes but the phenotype varies with the breakpoint

METHODOLOGY – fluorescence in situ hybridization (FISH)

TURN AROUND TIME – 7 days

PATIENT PREPARATION –

COLLECT – tumor tissue

SPECIMEN PREPARATION – formalin fixed paraffin embedded tissue block. Protect the slides from excessive heat.

STORAGE/TRANSPORT TEMPERATURE – room temperature (18-25 degrees C)

STABILITY – ambient: indefinitely; refrigerated: indefinitely

UNACCEPTABLE CONDITIONS – alternate fixatives and decalcified specimen

MRP – 6500.00

SPECIAL INSTRUCTIONS – clinical history is mandatory including surgical pathology reports