Days Set Up
Monday - Thursday
Analytic Time

2 - 7 days

MiChart Code
PAX/FOXO1 Translocation (Alveolar Rhabdomyosarcoma) by PCR
Soft Order Code

Test Updated:


PAX3 Chimeric Transcript Detection
PAX7 Chimeric Transcript Detection
FKHR Chimeric Transcript Detection
PAX/FKHR Alveolar Rhabdomyosarcoma Translocation Assay
Alveolar Rhabdomyosarcoma Translocation Detection

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Test Overview

Test Methodology

Reverse transcription followed by Polymerase Chain Reaction (PCR) with detection by capillary electrophoresis.

Test Usage

Rhabdomyosarcoma is a member of the group of "small round blue cell" tumors, and must be distinguished from morphologically similar pediatric tumors. Rhabdomyosarcoma includes two major histological subtypes, embryonal and alveolar. Of these, the alveolar type is associated with a worse prognosis. Two recurrent and distinctive chromosomal translocations occur in alveolar rhabdomyosarcoma. The t(2;13)(q35;q14) translocation joins the PAX3 and FOXO1 (FKHR) genes in approximately 60% of alveolar rhabdomyosarcomas, while the less common t(1;13)(p36;q14) joins PAX7 with FOXO1 in approximately 20% of cases. The juxtaposed genes lead to expression of chimeric transcripts consisting of the 5’ portion of PAX3 or PAX7 fused to the 3’ portion of the FOXO1 gene. This test qualitatively detects the PAX3/FOXO1 and PAX7/FOXO1 fusion transcripts in fresh/frozen or formalin-fixed paraffin embedded tissues. Testing can aid in distinguishing alveolar rhabdomyosarcoma from other similar tumors.

Reference Range

Interpretive report provided. The specific fusion transcript type is reported with a positive test result.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Offsite

A formalin-fixed, paraffin-embedded tissue block containing an area with a high percentage of neoplastic cells (for micro-/macro-dissection) is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.

Normal Volume
Formalin-fixed, paraffin-embedded tissue. Extracted RNA is also acceptable if extracted in a CLIA certified laboratory.
Minimum Volume

Billing Information

CPT Code
81401 x2
Pro Fee Code

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Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.