The Bone Marrow Failure Syndrome Panel consists of next-gen sequencing of all coding regions of the following 58 genes, shown grouped by categories of gene function or primary associated disease. Note: Patient and physician or genetic counselor signatures on the NeoGenomics Consent for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received. Fanconi Anemia: BRCA2 (FANCD1), BRIP1 (FANCJ), ERCC4 (FANCQ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2 (FANCN), RAD51C (FANCO), SLX4 (FANCP), XRCC2. Ribosome diseases: RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, RPS26. Telomere diseases: ACD (TPP1), CTC1, DKC1, NHP2 (NOLA2), NOP10 (NOLA3), POT1, RTEL1, TERC, TERF1 (TRF1), TERF2 (TRF2), TERF2IP (RAP1), TERT, TERT Promoter, TINF2, WRAP53. Acute myeloid leukemia (AML): CEBPA, DDX41, ETV6, RUNX1, SRP72. Severe congenital neutropenia (SCN): CSF3R, ELANE, G6PC3, GFI1, HAX1, WAS. Others: GATA1, GATA2, MPL, SBDS, THPO.
This broad-coverage panel detects germline mutations causing autosomal dominant, autosomal recessive, or X-linked disorders associated with congenital bone marrow failure (BMF). Diseases detected include Fanconi Anemia (FA), Shwachman-Diamond Syndrome (SDS, same as Shwachman-Bodian-Diamond), Diamond-Blackfan Anemia (DBA), dyskeratosis congenita, inherited AML susceptibility, and others. Multiplex testing is useful to differentiate syndromes with overlapping phenotypes and to determine disease subtypes as knowing the mode of inheritance may have implications for recurrence risk and genetic counseling.
Peripheral blood: 5 mL in EDTA tube
Use cold pack for transport. Make sure cold pack is not in direct contact with specimen