Ordering Recommendation

Use to assess for inherited/germline DNA variants associated with familial erythrocytosis. 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 acquired erythrocytosis, refer to JAK2 (V617F) Mutation by ddPCR, Qualitative With Reflex to JAK2 Exon 12 Mutation Analysis by PCR (3016840). To assess for somatic JAK2 and other DNA 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

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: Whole blood: Lavender (EDTA)

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 (Min: 2 mL)
New York State Clients: 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


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: Whole blood: Ambient: 48 hours


Massively Parallel Sequencing




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

Reference Interval

By report

Interpretive Data

Refer to report. 

Compliance Category

Laboratory Developed Test (LDT)


Genes tested: BPGM, EGLN1 (PHD2), EPAS1 (HIF2A), EPOR, HBB, HIF1A, JAK2, SH2B3, VHL*

*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 charges apply. 

Hotline History


CPT Codes

81364, 81404; 81479; for skin punch biopsy, add 88233


Component Test Code* Component Chart Name LOINC
3005722 ECYT Specimen 31208-2
3005723 ECYT Interp 50398-7
* 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.


  • Chuvash polycythemia
  • Congenital erythrocytosis
  • ECYT1
  • ECYT2
  • ECYT3
  • ECYT4
  • ECYT5
  • ECYT6
  • Familial erythrocytosis
  • Primary erythrocytosis
  • Primary familial or congenital polycythemia (PFCP)
  • Secondary erythrocytosis
  • Thrombocythemia 3 (THCYT3)
Hereditary Erythrocytosis Panel, Sequencing