JAK2_Exon 12-15

Synonyms

Janus Kinase 2, Exon 12-15

  • Tech Only CPT 81279
  • Tech Pro CPT 81279
  • PowerPath Code SINGLEGENEEXT (JAK2_Ex12-15)
  • Schedule Monday and Thursday
  • Turn Around Time 14-21 days
  • Disease State Essential Thrombocythemia, Mycosis Fungoides, Polycythemia Vera

Organs

Blood/Bone Marrow

Specimen Requirements

Container Type: Lavender top tube (EDTA)
Specimen Type: Whole Blood; Bone Marrow
Preferred Volume: 5mL Whole Blood; 2 mL Bone Marrow
Minimum Volume: 3 mL Whole Blood; 1 mL Bone Marrow

Diagnostic Utility

The JAK2 V617F is located in exon 14 and present in 50% to 60% of primary myelofibrosis and essential thrombocythemia, and 95% to 98% of polycythemia vera (PV). In the PV cases negative for the common V617F mutation, over 40 different mutations have been reported within exons 12 through 15 of JAK2 and essentially all of the non-V617F JAK2 mutations have been identified in PV. These mutations include point alterations and small insertions or deletions. Some of these alterations within Exon 12-15 have been shown to have functional impacts similar to those caused by the V617F mutation, some other alterations may not be well characterized and require further clinical correlation.

Required Patient Info

Copy of the referring client's requisition form to accompany specimen.

Storage and Transportation

Refrigerated: 5 days
Room Temp: 3 days

Cause for Rejection

Frozen specimen; clotted or grossly hemolyzed specimens; serum; specimens without 2 patient identifiers; serum or plasma, aliquots (previously open containers).

Retention

one week - whole blood. DNA - 2 years.

Comments

This test was developed, and its performance characteristics determined by CellNetix Labs LLC. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. CellNetix is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.

Vendor

LDT