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FISH, ETV6 (TEL) 12p13
Test Code33795
CPT Codes
88271 (x2), 88275
Preferred Specimen
5 mL whole blood or 3 mL bone marrow collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL whole blood • 1 mL bone marrow
Other Acceptable Specimens
Bone marrow transport tube (available upon request)
Instructions
Do not reject specimens, send to laboratory for screening
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Methodology
Fluorescence In Situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available: 5-7 days
Clinical Significance
The ETV6 dual color break apart probe is designed to detect rearrangements involving 12p13 in metaphase chromosomes with cryptic or complex rearrangements and in interphase cells from culture or FFPE. Rearrangements of the 12p13 region are one of the most common chromosome abnormalities found in human leukemia, myelodysplastic syndromes, myeloproliferative disorders and in solid tumors. More than half of the hematologic rearrangements of 12p13 involve ETV6. ETV6 has more than 30 translocation partner genes and five potential disease mechanisms. One of the more common rearrangements is t(12;21)(p13;q22) which is found in 15 to 35% of pediatric B-lineage ALL cases and is often undetected by conventional cytogenetic studies. There is a specific translocation probe set for this rearrangement. However, there are not probe sets for the other partners. Therefore, a break apart probe to define the involvement of ETV6 is important to determining diagnosis and therapy such as tyrosine kinase inhibitors. There are 26 of the more common rearrangement partners reported today.
