What is your experience with Fanconi Anemia cases, particularly molecular genetic testing involving - 15 genes- BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, and SLX4.
To introduce:
Fanconi anemia (FA) is rare in most populations, with a prevalence
of about 1 in 300000.
FA is a genetically heterogeneous chromosomal instability syndrome associated with multiple congenital abnormalities, aplastic anemia, and cancer.
Chromosomal instability diseases are a heterogeneous group of inherited diseases which is determined with the growth and development disorders, defects of the immune system and bone marrow function, as well as increased predisposition to cancer. These conditions occur as a result of mutations in genes involved in the process of repairing and maintaining genome stability.
Check out Cincinnati Children's Hospital's guide for testing: http://www.google.com/url?sa=t&rct=j&q=genetic%20testing%20fanconi%20anemia%20complementation%20group&source=web&cd=10&ved=0CH4QFjAJ&url=http%3A%2F%2Fwww.cincinnatichildrens.org%2FWorkArea%2FDownloadAsset.aspx%3Fid%3D86060&ei=Cj_-U47FHs7bigKa0IH4DQ&usg=AFQjCNFTgv7bMlPr0x8Yiag8drPVubo8VQ&sig2=fWQizohfyyWtypXe_R3N-A&bvm=bv.74035653,d.cGE
Here is also a guide to international testing for Fanconi anemia: http://www.fanconi.org/images/uploads/other/International_Treatment_and_Testing_Resource_Guide_2014.pdf
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