Cost 
$6,000.00
TAT 
6 weeks
CPT Code 
81479
Test Code 
5133
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
Any gene in the Comprehensive Inherited Bone Marrow Failure Panel can also be ordered individually. Please contact us directly for cost and CPT code information.
If sending saliva, 2 kits are required.

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 Comprehensive Inherited Bone Marrow Failure Panel includes sequence analysis of the following 49 genes, and deletion/duplication analysis of the 30 genes listed in bold:

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 Comprehensive Bone Marrow Failure Panel can also be ordered individually. Please contact us directly for cost and CPT code information.