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.

Mnemonic

HMYE NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

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 ringers.
New York State Clients: Collect Monday-Thursday only.

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: 1.5 mL)
New York State Clients: Cultured skin fibroblasts: 2 T-25 flasks at 80 percent confluency. 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.

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: Cultured skin fibroblasts: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable,
Whole blood: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable

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 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.

Compliance Category

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.

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

Hotline History

N/A

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
* 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

  • familial acute myeloid leukemia (AML)
  • Familial myelodysplastic syndrome (MDS)
Hereditary Myeloid Neoplasms Panel, Sequencing