Inherited bone marrow failure syndromes are a diverse group of rare disorders associated with insufficient production of blood cells and cancer predisposition. Bone marrow failure can affect all three hematopoietic cell lineages, or be restricted to one particular lineage. Aplastic anemia can also be caused by other disorders, including paroxysomal nocturnal hemoglobinuria, myelodysplastic syndrome and acute myeloid leukemia.
Our Inherited Bone Marrow Failure Sequencing Panel includes sequence analysis of the following 49 genes: C16orf57, CTC1, DKC1, NOLA3, NHP2, RTEL1, TERC, TERT, WRAP53, BRCA2, BRIP1, ERCC4, FANCA, FANCb, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, CSFR3, ELANE, G6PC3, GFI1, HAX1, VPS45, WAS, GATA2, MPL, RBM8A, RUNX1, SBDS, SBF2, SRP72.
NOTE: Blood samples can be accepted for patients with bone marrow failure only if there is no history of hematologic malignancies or MDS. Cultured skin fibroblasts is the recommended specimen type for patients with a history of MDS/leukemia (2 T-25 flasks). Please contact the laboratory for more information about specimen requirements.
Any gene in the Inherited Bone Marrow Failure Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.