Alternative Name
Hereditary Bone Marrow Failure
Methodology
Molecular
Test Description

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.

Clinical Significance

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.

Specimen Requirements

Peripheral blood: 5 mL in EDTA tube

Storage and Transportation

Use cold pack for transport. Make sure cold pack is not in direct contact with specimen

CPT Code(s)*
81450x1
Turnaround Time

21 days

Level of Service
Global

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.