Additional Information:
UFHPL Test #: 30170
UFHPL Epic order code: LAB5851
CPT Code(s):
- 88271
- 88275
- 88291
Specimen Requirements:
- Bone Marrow Aspirate: Obtain 1 – 2 cc of in a green-top sodium heparin tube and immediately rotate it thoroughly to ensure adequate mixing with the anticoagulant.
- Bone Marrow Core Biopsy: Deposit samples in a sterile container containing tissue culture medium with antibiotics (RPMI) that have been brought to room temperature before collection.*
- Peripheral Blood Specimens: Peripheral blood specimens may be submitted in those clinical conditions (e.g. circulating blasts).
- Unacceptable Conditions:
- Frozen specimens
- Specimens for FISH study only greater than one week old
- Specimens for concurrent FISH and cytogenetic studies greater than 48 hours old*
- Formalin, alcohol or paraffin-preserved specimens
- Stability (collection to initiation of testing):
- Ambient: 24 – 48 hours*
- Frozen: Unacceptable
* Cell viability of specimens requiring cell culture may be compromised in specimens more than 48 hours old upon receipt. Refrigeration at 2° – 8° C may assist when a delay is not preventable. Do not freeze or place specimens directly on ice.
Use:
This test is used to detect the presence of rearrangements involving the EWSR1 gene locus at 22q11.2 in non-preserved/fixed tissue specimens, which have been described in several types of soft tissue neoplasms, including Ewing sarcoma, PNET, clear cell sarcoma and extraskeletal myxoid chondrosarcoma.
Methodology:
Interphase nuclei fluorescence in-situ hybridization (FISH) fusion rearrangement analyses; a concurrent or previous conventional cytogenetic workup is required/recommended (where possible).
Reported:
5 – 12 days
Reference Values:
By report; interpretive