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Laboratory Test Directory

JAK1 and JAK2 Targeted Sequencing, ALL

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, Buccal swab

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL
Stability

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

Alternate

Buccal swab kit

N/A
Stability

Room temperature - 24 hour(s)

Specimen Preparation

  • Do not freeze
  • Keep at room temperature
  • Do not centrifuge

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

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 Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required and submission of informed consent is recommended.

This analysis will focus on targeted sequence analysis of specific exons in each gene (exons 13, 14, 15, 18, and 19 of JAK1; exons 16, 20, and 21 of JAK2). Please note: this analysis does NOT include the JAK2 V617F mutation commonly seen in myeloproliferative disorders. Based on previous studies of standard-risk and high-risk relapse ALL patients, several groups have demonstrated that the majority of somatic mutations in pediatric ALL patients occur in JAK1 and JAK2. Additionally, increased CRLF2 expression by 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 JAK1/2 sequence mutation and is generally associated with a poor outcome in non-Down syndrome patients.

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 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). Pathology review by a Laboratory Services pathologist will be performed on submitted samples to verify tumor percentage. 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 nature of the sequence change (somatic or germline).

Please call (614) 722-2866 prior to shipping and provide tracking number. Ship for overnight delivery. Saturday are deliveries accepted. Please check Saturday Delivery on shipment label.

 

Forms

Lab Form

CPT Code

  • 81479