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Laboratory Test Directory

JAK1 and JAK2 Targeted Sequencing, ALL (Updated)

Components

Name Method Department Units
JAK1 and JAK2 Targeted Sequencing, ALL Polymerase chain reaction (PCR)
Targeted sequence analysis
Sanger sequencing
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not freeze
  • Do not centrifuge
  • Keep at room temperature or refrigerate
  • Liquid tumor sample must contain a minimum of 50% blasts

Bone marrow

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL
Stability

Refrigerated - 72 hour(s)
Room temperature - 24 hour(s)

Specimen Preparation

  • Do not freeze
  • Keep at room temperature
  • Do not centrifuge
  • Liquid tumor sample must contain a minimum of 50% blasts

Reasons for Rejection

  • Centrifuged specimen
  • Clotted specimen
  • Wrong collection tube
  • Delayed or improper handling

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Oncology Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required and submission of informed consent is recommended but not required. Please send all samples via overnight delivery. Saturday deliveries are accepted; please check Saturday Delivery on shipment label.

This is a targeted sequence analysis of select exons of the JAK1 gene (exons 13, 14, 15, 18, and 19) and the JAK2 gene (exons 16, 20, and 21). Based on previous studies of patients with standard-risk and high-risk relapse acute lymphoblastic leukemia (ALL), several groups have demonstrated that the majority of somatic mutations in pediatric ALL patients occur in the JAK1 and JAK2 genes. Additionally, increased CRLF2 expression by low density array (LDA) or flow cytometry has been identified in a subset of children with precursor B-ALL and many Down syndrome cases. This finding appears to commonly occur with a concomitant JAK1 or JAK2 mutation and is generally associated with a poor outcome in non-Down syndrome patients. PLEASE NOTE: this analysis does NOT include testing for the V617F mutation in the JAK2 gene commonly seen in myeloproliferative disorders. 

Please collect bone marrow or involved peripheral blood samples in EDTA (lavender top) tubes. A diagnostic sample (strongly preferred) or relapse sample previously submitted under a COG protocol can also be used in most cases (some cases may require approval from the study chair); please call the laboratory to confirm sample availability. A sample containing minimum of 50% blasts is required to report a result within a mixed cell population. A blast percentage of <50% may be reported as unsatisfactory (no results reported). An internal pathology review by a Nationwide Children's Laboratory Pathologist will be performed on submitted samples to verify tumor content in submitted samples.

For mutations reported as likely pathogenic or variant of unknown significance, a germline sample from the individual (buccal swab or uninvolved peripheral blood sample) is required to determine the mutation is somatic or germline in origin.

Forms

Lab Form

CPT Code

  • 81479