FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH

Also known as: FKHR_FISH

Clinical Use

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

Not provided.

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.

Test Details

New York Approved

Methodology

Chromosomal / Cytogenetics (FISH)

Biomarkers

Result Turnaround Time

3-7 days

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.