Test Code: MGX015

The Janus kinase 2 gene (JAK2) codes for a tyrosine kinase (JAK2) that is associated with the cytoplasmic portion of a variety of transmembrane cytokine and growth factor receptors important for signal transduction in hematopoietic cells. Deletions in exon 12 is used for the diagnosis and follow-up of myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and chronic neutrophilic leukemia (CNL).

Capillary Electrophoresis (Sanger) DNA Sequencing

Peripheral Blood

Requirements: Collect 3 ml – 5 ml of whole blood in EDTA (purple top tube), minimum 1 ml for small infants.

Shipping: DO NOT FREEZE. Include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube. At room temperature, a blood specimen is stable for up to 48 hours. If refrigerated, a blood specimen is stable for up to one week.

Dried Blood Spot (DBS)

Requirements: Send 4 or more completely filled spots, each 10 mm in diameter. DBS cards should dry at room temperature for at least 3 hours after collection. DNA from DBS cards has inconsistent quantity and quality, which may result in delayed testing and/or the need for a second specimen.

Shipping: Send specimens at room temperature and after drying.

DNA

Requirements: Send in a screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 100 ng/uL, minimum 2 µg for limited specimens. Indicate concentration on tube label. For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible. DNA quality should be measured at A260/280 and be >1.8 for the sample to be acceptable for processing

Extracted DNA samples can only be accepted from CAP-accredited or equivalent facilities.

Shipping: Specimens may be shipped at room temperature. Label the tube with the composition of the solute and DNA concentration along with the patient’s name, date of birth, and/or ID number. DNA must be extracted using a column-based purification technique.

BUCCAL SWABS

Requirements:  Buccal Swab should be used according to manufacturer instructions.

Shipping: Specimens may be shipped at room temperature.

  • Standard (2-3 weeks)
  • Urgent (1 week)

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