Test Name:
JAK2 Exon 12 Mutation Analysis
CPT Code:
81279
Turn Around Time:
24 – 72 hours
Clinical Application:
Detection of insertion /deletion mutations as well as the K539L substitution mutation in exon 12 of the JAK2 gene. This assay detects the most frequent mutations reported in exon 12 of JAK2. Additional testing by deep sequencing is performed for positive cases to further classify and annotate the detected variant.
Diagnosis.
Methodology:
PCR, fragment length analysis. LoD: 5%
For sensitive monitoring purposes, deep sequencing (NGS) is required.
Specimen Requirements:
DNA-based assays
Peripheral Blood: Minimum 2 mL in EDTA (purple top) preferred or 2 mL in sodium heparin (green top)
Bone Marrow: Minimum 1 mL in EDTA (purple top) preferred or 1 mL in sodium heparin (green top)
Paraffin Sections: Minimum of 5 sections at 3 microns each
Note: FFPE bone marrow biopsies can result in inadequate DNA due to decalcification (clots sections preferable).
FFPE for Dermatology-related specimens are not accepted.
FFPE is not an acceptable sample for NGS-based assays.
Storage and Transportation:
Please store and ship specimens at ambient temperatures.
Please refer to our full specimen requirements at Hematologics/Specimen Requirements for additional information and for directions on the storage and shipping of extracted DNA or RNA.