Test Directory

Genes Tested:

ABCB7, ACD, ADA2 (CECR1), AK2, ALAS2, ANKRD26, AP3B1, ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, C15orf41, CARD11, CBL, CD40LG, CDAN1, CEBPA, CLPB, CSF3R, CTC1, CXCR2, CXCR4, CYCS, DDX41, DKC1, DNAJC21, DNMT3A, DUT, EFL1, EIF2AK3, ELANE, EPO, ERCC4, ERCC6L2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, G6PC3, GATA1, GATA2, GFI1, GLRX5, GP1BA, GP1BB, GP9, GRHL2, HAX1, HOXA11, HYOU1, IKZF1, ITGA2B, ITGB3, JAGN1, JAK2, KIF23, KIT, KLF1, KRAS, LAMTOR2, LIG4, LYST, MAD2L2, MASTL, MBD4, MECOM, MPL, MRTFA (MKL1), MYH9, MYSM1, NAF1NBN, NHEJ1, NHP2, NOP10, NSMCE3, PALB2, PARN, PAX5, PGM3, POT1, PTPN11, PUS1, RAB27A, RAC2, RAD51, RAD51C, RBM8A, RFWD3, RMRP, RNF168, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15, RPS15A, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SALL4, SAMD9, SAMD9L, SBDS, SBF2, SEC23B, SH2B3, SLC19A2, SLC25A38, SLC35C1, SLC37A4, SLX4, SMARCD2, SRP54, SRP72, STIM1, STK4, STN1, TAZ, TCIRG1, TCN2, TERC, TERF2IP, TERT, TET2, THPO, TINF2, TLR8, TP53, TRNT1, TSR2, TUBB1, UBE2T, USB1, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XRCC2, YARS2, ZCCHC8.

This panel is specifically designed to diagnose the most common genetic causes of bone marrow failure including dyskeratosis congenita, Diamond Blackfan anemia, Fanconi anemia, congenital dyserythropoietic anemia, familial bone marrow failure, Schwachman Diamond syndrome, congenital amegakaryocytic thrombocytopenia/other syndromic thrombocytppenia, and inherited causes of neutropenia.

Specimen Type: Bone Marrow

Alternate Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Desired Specimen Volume: 3 mL

1. Collect a lavender top (EDTA) tube via venipuncture.

A Cincinnati Children's GENETICS AND GENOMICS DIAGNOSTIC LABORATORY requisition is required for testing.

1. Transport 3 mL of bone marrow or whole blood in the original collection container.
2. Protect from extreme temperatures.
3. If this volume is not able to be obtained the reference lab will attempt to perform the test requested. The reference lab cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.

Transport to the laboratory at room temperature.  

See patient report.

• BMF Gene Seq Panel (Bone Marrow Failure Gene Seq Panel)