Testing is performed by Fulgent Genetics. Patient and physician or genetic counselor signatures on the Fulgent Genetics Informed Consent for Genetic Testing form are required. Testing will be put on hold until signatures are received. A complete test description, including list of genes tested, is available here.
Gene list: AP3B1, BRCA2, BRIP1, CSF3R, CXCR4, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, LAMTOR2, LYST, MPL, NHP2, NOP10, PALB2, RAB27A, RAC2, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SLC37A4, SLX4, SRP72, TAZ, TERC, TERT, TINF2, USB1, VPS13B, VPS45, WAS, WRAP53 ( 60 genes).
- Peripheral blood: two x 4 mL EDTA tubes