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Hereditary Myeloid Neoplasms Panel, Sequencing
Ordering Recommendation
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.
New York DOH Approval Status
Specimen Required
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.
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: 1.5 mL)
New York State Clients: Cultured skin fibroblasts: 2 T-25 flasks at 80 percent confluency.
If ARUP receives a sample below the minimum confluence, Cell Culture for Genetic Testing (3020627) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, Cell Culture for Genetic Testing should be added to initial order.
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. 5161.
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: 2 weeks; Frozen: Unacceptable
New York State Clients: Cultured skin fibroblasts: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable,
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
Refer to report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Genes tested: ANKRD26*, ATM, BLM, CBL, CEBPA, DDX41, ELANE, ETV6, GATA1, GATA2, KRAS, NBN, PTPN11*, RUNX1, SAMD9, SAMD9L, SRP72*, TERC, TERT, TP53.
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
If a skin punch biopsy is submitted, specimen will be reflexed for culturing. Additional charge apply.
Hotline History
Hotline History
CPT Codes
81479; for skin punch biopsy, add 88233.
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3001843 | Hereditary Myeloid Neoplasms Specimen | 31208-2 |
| 3001844 | Hereditary Myeloid Neoplasms Interp | 35474-6 |
Aliases
- familial acute myeloid leukemia (AML)
- Familial myelodysplastic syndrome (MDS)
