Li-Fraumeni syndrome
Analysis ID 157
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Li-Fraumeni syndrome
OMIM #151623
Clinical information Li-Fraumeni syndrome is a rare genetic disorder, which conveys a great increase in the risk of developing cancer. Cancers associated with Li-Fraumeni syndrome include breast cancer, osteosarcoma, sarcoma, brain tumors, leukemia, adrenocortical carcinoma, and other. A very similar condition called Li-Fraumeni-like syndrome shares many features of classic Li-Fraumeni syndrome. Both conditions convey significantly increased risk of developing multiple cancers beginning from childhood. The pattern of cancers seen in affected family members is different.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes TP53
Analysis description Analysis consists of sequencing of 5 exons (5-9) of the TP53 gene
Analysis indication Symptoms of Li-Fraumeni syndrome
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for Molecular Genetics and Oncology