Chromosome Analysis forAneuploidy Detection

DESCRIPTION – this profile is only used for newborns with suspected aneuploidy. This include probes for trisomy 12, trisomy 18, trisomy 21, and the X and Y sex chromosomes.

CLINICAL UTILITY – this assay helps in diagnosing chromosomal causes of fetal death and determining reoccurrence risk for future pregnancy losses. Chromosomal abnormality may result in malformed fetuses, spontaneous abortions or neonatal deaths. Frequency of spontaneous abortions in chromosomal abnormalities is 15-60%

METHODOLOGY – fluorescence in situ hybridization (FISH)

TURN AROUND TIME – 32 days

PATEINT PREPARATION –

COLLECT – sodium heparin

SPECIMEN PREPARATION – do not expose to high temperatures. Transport 5 ml whole blood

STORAGE/TRANSPORT TEMPERATURE – ambient 8-25 degrees C. do not freeze

STABILITY – ambient: 48 hours; refrigerated: 48 hours

UNACCEPTABLE CONDITIONS – frozen and clotted specimens

MRP – 5500.00

SPECIAL INSTRUCTIONS – clinical history is mandatory