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).
Massively Parallel Sequencing
3 weeks. If specimen is a skin punch biopsy, add 2 weeks for culturing.
New York DOH Approval Status
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: Collect Monday-Thursday only.
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: Only whole blood: Transport 5 mL whole blood (min. 3 mL). Do not send cultured fibroblasts to ARUP Laboratories. Specimens must be received at performing laboratory within 48 hours of collection. For specimen requirements and direct submission instructions, please contact ARUP Referral Testing at (800) 242-2787, ext. 5145.
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
Grossly hemolyzed or frozen specimens; formalin fixed tissue, FFPE
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.
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
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.
Laboratory Developed Test (LDT)
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.
81443; for skin punch biopsy, add 88233.
|Component Test Code*||Component Chart Name||LOINC|
- aplastic anemia
- Diamond-Blackfan anemia
- dyskeratosis congenita
- Fanconi anemia
- hereditary myeloid neoplasms
- telomere biology disorders