3001615
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Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication

BMF NGS
Example Reports
Negative
Positive

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Additional Technical Information

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Hereditary Myeloid Neoplasms And Bone Marrow Failure Patient History Form

Ordering Recommendation

Use to assess for inherited/germline DNA variants associated with bone marrow failure or hereditary predisposition to myeloid neoplasms. The preferred sample type is cultured skin fibroblasts; testing whole blood in affected patients may not definitively determine germline status. Not intended to detect somatic variants; to assess for somatic variants of prognostic and/or therapeutic significance, refer to Myeloid Malignancies Mutation Panel by Next Generation Sequencing (2011117).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Cultured skin fibroblasts (preferred) or
Whole blood: Lavender (EDTA) or yellow (ACD solution A or B). Or
Skin punch biopsy: Thaw media prior to tissue inoculation. Place skin punch biopsy in a sterile, screw-top container filled with tissue culture transport medium (ARUP Supply #32788). Available online through eSupply using ARUP Connect™. If cytogenetics tissue media is not available, collect in plain RPMI, Hanks' solution, sterile saline, or Ringer's solution.
New York State Clients: Lavender (EDTA) or yellow (ACD solution A or B) AND Prevention Genetics Healthcare Provider Statement

Specimen Preparation

Cultured skin fibroblasts: 2 T-25 flasks at 80 percent confluency, Fill flasks with culture media. Backup cultures must be maintained at the client's institution until testing is complete.   Skin punch biopsy DO NOT FREEZE. Do not place in formalin. Transport a 4 mm skin biopsy in a sterile, screw-top container filled with tissue transport medium. Whole blood: Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: Transport 5 mL whole blood (Min: 3 mL)

Storage/Transport Temperature

Cultured skin fibroblasts: Critical room temperature. Must be received within 48 hours of shipment due to lability of cells.
Skin punch biopsy: Room temperature
Whole Blood: Refrigerated

Unacceptable Conditions

Grossly hemolyzed or frozen specimens; formalin fixed tissue, FFPE

Remarks

Cultured skin fibroblast backup cultures must be retained at the client's institution until testing is complete. Skin punch biopsies can be cultured at ARUP at an additional charge.

Stability

Cultured skin fibroblasts: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable,
Skin punch biopsy: Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Whole blood: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Only whole blood: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days
If specimen is a skin punch biopsy, add 2 weeks for culturing.

Reference Interval

By report

Interpretive Data

Refer to report.   

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes Tested: ACD; ALAS2; ANKRD26; ATM; BLM; BRCA1* (NM_007294); BRCA2 (NM_000059); BRIP1; CBL; CEBPA**; CSF3R; CTC1; CXCR4*; DDX41; DKC1; DNAJC21*; ELANE; ERCC4; ERCC6L2*; ETV6; FANCA*; FANCB; FANCC; FANCD2*; FANCE; FANCF; FANCG; FANCI; FANCL*; G6PC3; GATA1; GATA2; GFI1; HAX1; HOXA11; IKZF1; KRAS; MBD4; MPL; MYH9; NBN; NHP2; NOP10**; NRAS; PALB2; PARN; PTPN11; RAD51C; RMRP**; RPL11; RPL15**; RPL26; RPL35A; RPL5; RPS10; RPS19; RPS24; RPS26; RPS7; RTEL1; RUNX1; SAMD9; SAMD9L; SLX4; SRP72; TERC***; TERT; TET2; TINF2; TP53; UBE2T; USB1; VPS45; WAS; WRAP53

*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
**Deletion/duplication detection is not available for this gene.
***Duplication detection is not available for this gene.

If a skin punch biopsy is submitted, specimen will be reflexed for culturing. Additional charges apply.

Hotline History

N/A

CPT Codes

81443; for skin punch biopsy, add 88233.

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Components

Component Test Code* Component Chart Name LOINC
3001616 BMF Interp 62365-2
3001687 BMF Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • aplastic anemia
  • Diamond-Blackfan anemia
  • dyskeratosis congenita
  • Fanconi anemia
  • hereditary myeloid neoplasms
  • telomere biology disorders
Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication