Use to assess for inherited/germline DNA variants associated with myeloid neoplasms with germline predisposition. Not intended to detect somatic variants; to assess somatic DNA variants of prognostic and/or therapeutic significance, please see Myeloid Malignancies Mutation Panel by Next Generation Sequencing (2011117). The preferred sample type is cultured skin fibroblasts.
Massively Parallel Sequencing
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 ringers.
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: 1.5 mL)
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
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US 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: ANKRD26*, ATM, BLM, CBL, CEBPA, DDX41, ELANE, ETV6, GATA1, GATA2, KRAS, NBN, PTPN11*, RUNX1, SAMD9, SAMD9L, SRP72*, TERC, TERT, TP53.
If a skin punch biopsy is submitted, specimen will be reflexed for culturing. Additional charge apply.
81479; for skin punch biopsy, add 88233.
|Component Test Code*||Component Chart Name||LOINC|
|3001843||Hereditary Myeloid Neoplasms Specimen||31208-2|
|3001844||Hereditary Myeloid Neoplasms Interp||35474-6|
- familial acute myeloid leukemia (AML)
- Familial myelodysplastic syndrome (MDS)