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FISH, Alveolar Rhabdomyosarcoma (ARMS), FKHR, 13q14 Rearrangement
Test Code19772
CPT Codes
88275, 88271 (x2)
Preferred Specimen
3 mL bone marrow, or 5x5mm fresh biopsy specimen submitted in a sterile container with culture medium and antibiotics, or 5x5mm tissue, submitted in formalin-fixed paraffin-embedded tissue block
Minimum Volume
1 mL bone marrow
Other Acceptable Specimens
Bone marrow collected in: sodium heparin (green-top), or sodium heparin, lead-free (tan-top) tube • 5x5mm lymph node/tumor collected in a sterile container in Hanks' Ringers solution or culture medium with antibiotics
Instructions
Clinical history and reason for referral are required with test order. Prior therapy and transplant history should be provided with test order.
Specimen viability decreases during transit. Send specimen to testing laboratory for viability determination. Do not freeze. Do not reject.
Note: Principle of test: 100 - 300 interphase cells are microscopically analyzed for probe signal patterns, indicating presence, absence, or rearrangement of the FKHR region of chromosome 13q14.
If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication.
Specimen viability decreases during transit. Send specimen to testing laboratory for viability determination. Do not freeze. Do not reject.
Note: Principle of test: 100 - 300 interphase cells are microscopically analyzed for probe signal patterns, indicating presence, absence, or rearrangement of the FKHR region of chromosome 13q14.
If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See instructions
Refrigerated: See instructions
Frozen: See instructions
Refrigerated: See instructions
Frozen: See instructions
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 the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Sun-Fri; Report available: 5 days
Reference Range
Interpretive Report
Clinical Significance
Chromosomal rearrangements involving the FKHR gene on chromosome 13q14 are associated with alveolar rhabdomyosarcoma (ARMS). Identification of RMS is a diagnostic dilemma for pathologists, since other small round blue cell tumors are usually part of the differential diagnosis. This probe detects a rearrangement on 13q14, which is involved in 2 translocations seen in ARMS, the common t(2;13)(q35.2;q14) and the variant t(1;13)(p36;q14). These translocation are found in approximately 80% of cases of ARMS.
