Oncology Probes

Prenatal probesPrenatal cytogenetic analysis requires the isolation of metaphase chromosomes and takes 7-14 days for thefinal results. This waiting period tends to cause psychological distress for pregnant women and their families.Aneuploidies of 5 chromosomes (13, 18, 21, X, Y) account for 95% of the chromosomal aberrations that causeinfants born with defects. Fluorescent labeled DNA probes of the 13, 18, 21, X, Y chromosomes can be usedon uncultured cells obtained directly from amniotic fluid. The FISH rapid technique allows to reliably detectnumerical aberrations for these chromosomes.While not all chromosome abnormalities can be identified simply by counting specific chromosomes within acell, the majority of the most common abnormalities of chromosome number, including Down syndrome (trisomy21), trisomy 18, trisomy 13, Klinefelter syndrome (47,XXY), triple-X syndrome (47,XXX), Turner syndrome (45,X)and 47,XYY can be reliably determined. The FISH analysis does not detect structural chromosome abnormalities,mosaicism, and other numerical chromosome abnormalities (excluding X, Y, 13, 18, and 21). In addition, falsepositiveor negative results, as well as maternal cell contamination, have been demonstrated in prenatal FISHanalysis. It is recommended (e.g. American College of Medical Genetics) that irreversible therapeutic actionshould not be initiated on the basis of FISH results alone.Trisomy 21 – Down SyndromeDown syndrome is caused by an extra chromosome 21. It isthe most common single cause of human birth defects, with anoccurrence in 1 out of every 660 births. Congenital heart defectsare frequently present in Down syndrome children. The normallife span mainly is shortened in Down syndrome by congenitalheart disease and by increased incidence of acute leukemia.Mental retardation is variable, and usually moderate. Someadults live independently and are accomplished individuals.Trisomy 13 – Patau SyndromeTrisomy 13, also called Patau syndrome, is a chromosomalcondition that is associated with severe mental retardationand certain physical abnormalities. Affected individualsrarely live past infancy because of the life-threateningmedical problems associated with this condition. Trisomy13 affects approximately 1 in 10,000 newborns. The risk ofhaving a child with trisomy 13 increases as a woman getsolder.The chromosome 21 specific region probe is optimized to detectcopy numbers of chromosome 21 at 21q22.1 on unculturedamniotic cells. In all PN combinations the 21q specific DNAprobe is direct-labeled in red with PlatinumBright550.The chromosome 13 specific region probe is optimized to detectcopy numbers of chromosome 13 at 13q14.2 on unculteredamniotic cells. In all PN combinations the 13q14 specific DNAprobe is direct-labeled in green with PlatinumBright495.Cat.# KBI-40002 PN 21 (21q22)Cat.# KBI-40001 PN 13 (13q14)RH 72110D13S1195Prenatal Probes2121q22.1DSCR1D21S65RH 92717360 KBPN 21 (21q22) probe hybridizedto a normal metaphase (2R).1313q14RB1D13S810900 KBPN 13 (13q14) probe hybridizedto a normal metaphase (2G).68