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Laboratory Test Directory

IL7R Targeted Sequencing, ALL

Components

Name Method Department Units
IL7R Targeted Sequencing, ALL Polymerase chain reaction (PCR)
Sanger sequencing
Targeted sequence analysis
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Required

Purple tube (EDTA)

4 mL 4 mL
Stability

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

Specimen Preparation

  • Involved tumor specimen (e.g. bone marrow, involved peripheral blood) is required. Secondary normal specimen (e.g. uninvolved peripheral blood or buccal swab) is also required. Please see comment section for additional information.
  • Do not centrifuge
  • Do not add fixative
  • Do not freeze
  • Transport to laboratory as soon as possible

Bone marrow

Container Type Container Size Specimen Volume
Required

Purple tube (EDTA)

4 mL 3 mL-10 mL
Stability

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

Specimen Preparation

  • Involved tumor specimen (e.g. bone marrow, involved peripheral blood) is required. Secondary normal specimen (e.g. uninvolved peripheral blood or buccal swab) is also required. Please see comment section for additional information.
  • Do not centrifuge
  • Transport to laboratory as soon as possible

Buccal swab

Container Type Container Size Specimen Volume
Required

Buccal swab kit

N/A
Stability

Room temperature - 24 hour(s)

Specimen Preparation

  • Involved tumor specimen (e.g. bone marrow, involved peripheral blood) is required. Secondary normal specimen (e.g. uninvolved peripheral blood or buccal swab) is also required. Please see comment section for additional information.

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 Tests Requisition Form is required, and submission of informed consent dorm is recommended.

Submission of liquid tumor sample (e.g. bone marrow, involved peripheral blood) containing a minimum of 50% blast content AND submission of a normal sample (e.g. uninvolved peripheral blood, buccal swab) is required for this test. Please collect bone marrow or involved peripheral blood samples in EDTA (lavender top) tubes. A diagnostic 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% blast content is required to report a result within a mixed cell population. A blast percentage of <50% may be reported as unsatisfactory (no results reported). Internal pathology review by a Nationwide Children's pathologist will be performed on submitted tumor sample to verify blast percentage.

For findings reported as a likely pathogenic variant or a variant of unknown significance, a normal (germline) sample from the individual is required to determine whether the finding is a somatic or germline finding. This analysis is a targeted, single exon sequence analysis of exon 6 of the IL7R gene. Subgroups of T-ALL and B-ALL patients have been found to have somatic, heterozygous, insertion-deletion mutations in exon 6 of the IL7R gene that result in a gain of function leading to aberrant stimulation of the JAK/STAT5 pathway and aberrant cell growth. Activating mutations in IL7R appear to induce malignant transformation that may be attenuated with tyrosine kinase inhibitors, suggesting that targeted therapy may lead to more successful treatment out for these patients. While somatic gain of function in IL7R leads to carcinogenesis, germline loss of function in IL7R leads to severe combined immunodeficiency.

Please call (614) 722-2866 for any questions. Ship for overnight delivery. Saturday deliveries are accepted. Please check “Saturday Delivery” on shipment label.

Forms

Lab Form

CPT Code

  • 81479