Oncology Probes

MD IGF1R (15q26) / 15q11Congenital diaphragmatic hernia (CDH) is a severe, lifethreatening,congenital anomaly characterized by variabledefect in the diaphragm, pulmonary hypoplasia, and postnatalpulmonary hypertension. Deletion of the IGF1R (insulin-likegrowth factor 1 receptor) gene region at 15q25 is the mostfrequent anomaly found in CDH. The type 1 IGF receptorat 15q26 is required for normal embryonic and postnatalgrowth. Deletions, but also gain of an approximately 5 Mbregion including the IGF1R gene has been found to have aprofound effect on prenatal and early postnatal growth.The IGF1R (15q26) specific probe is optimized to detect copynumbers of the IGF1R gene region at region 15q26. The15q11 (SNRPN / UBE3A) specific region probe is included tofacilitate chromosome identification.Cat.# KBI-40116 IGF1R (15q26) / 15q11RH54346SNRPN900 KB15q11UBE3AD15S1015 15q26SHGC 154952IGF1R530 KBRH294IGF1R (15q26) / 15q11 probe hybridized to patient materialshowing a deletion of the IGF1R gene region at 15q26 (1R2G).Literature:Faivre et al, 2002, Eur J Hum Genet. 10 ; 699-706.Okubo et al, 2003, J Clin Endocrinol. Metab 88 ; 5981-5988Ordering information Gene Region Tests Cat#MD IGF1R (15q26) / 15q11 IGF1R 10 KBI-40116Microdeletion Probes81