Test Code: MGX016
The calcium-binding endoplasmic reticulin chaperone protein, calreticulin (CALR), is somatically mutated in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60% to 88% of patients with JAK2-negative primary myelofibrosis (PMF). The majority of mutational changes involve a variety of insertion or deletion mutations in exon 9 of the calreticulin gene: approximately 53% of all CALR mutations are a 52 bp deletion (type-1) while the second most prevalent mutation (approximately 32%) contains a 5 bp insertion (type-2). This assay is designed to detect the presence of deletions, insertions and sequence variations in exon 9 of the CALR gene.
Capillary Electrophoresis (Sanger) DNA Sequencing
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.
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.
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.
Requirements: Buccal Swab should be used according to manufacturer instructions.
Shipping: Specimens may be shipped at room temperature.