FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH
Also known as: FKHR_FISH
Use
The FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH test is utilized in the diagnosis of alveolar rhabdomyosarcoma. This test detects rearrangements involving the FOXO1 gene, which is indicative of this specific type of soft tissue sarcoma. It is used alongside histologic and clinical information to confirm the diagnosis in patients suspected of having alveolar rhabdomyosarcoma.
Special Instructions
Formalin fix (10 percent neutral buffered formalin) is required for specimen preparation, and specimens should be protected from excessive heat. Paraffin blocks or 5 unstained positively charged slides should be transported in a tissue transport kit, although this is only recommended and not mandatory. A surgical pathology report must accompany all specimens. In cases where multiple specimens are provided, specific instructions on specimen selection must be included, or charges for pathologist block selection may apply.
Limitations
This FISH test is designed to detect rearrangements involving the FOXO1 gene, but it does not identify specific partner genes. An abnormal signal pattern in 25 percent or more of the evaluated tumor cells is considered positive. The test is expected to detect 94 percent of FOXO1 rearrangements but may miss rare cryptic rearrangements. The assay range and limit of detection were validated using normal and known positive cases.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
2 slides
Container
Tissue block or 5 unstained slides in a tissue transport kit
Collection Instructions
Protect paraffin block from excessive heat. Transport in a tissue transport kit available from ARUP
Patient Preparation
Formalin fix (10 percent neutral buffered formalin) and paraffin embed tissue
Storage Instructions
Room temperature or refrigerated. Ship in cooled container during summer months
Causes for Rejection
Paraffin block with no tumor tissue remaining. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Indefinitely |
| Refrigerated | Indefinitely |
| Frozen | Unacceptable |