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 (3003801). 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).
Massively Parallel Sequencing
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 Ringers.
New York State Clients: Only whole blood, lavender (EDTA) tube, refrigerated
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.
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: Only whole blood: Ambient: 48 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Refer to report.
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.
81364, 81404; 81479; for skin punch biopsy, add 88233
|Component Test Code*||Component Chart Name||LOINC|
- Chuvash polycythemia
- Congenital erythrocytosis
- Familial erythrocytosis
- Primary erythrocytosis
- Primary familial or congenital polycythemia (PFCP)
- Secondary erythrocytosis
- Thrombocythemia 3 (THCYT3)