If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, formalin-fixed paraffin-embedded (FFPE) tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen.

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue, FFPE tissue, or FFPE slides at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

This test is a FISH analysis performed on tumor specimens and identifies rearrangement (translocation) of the FOXO1 gene (also known as the FKHR gene) resulting in gene fusion with PAX3 or PAX7 gene, which is observed in alveolar subtype of rhabdomyosarcoma. Presence/absence of this gene fusion can aid in differentiation of rhabdomyosarcoma subtypes (embryonal, alveolar, or pleomorphic subtypes).

Rhabdomyosarcomas are the most common soft-tissue sarcoma in children under 15 years of age, and there are three subtypes: embryonal, alveolar, and pleomorphic. Identifying the subtype of rhabdomyosarcoma present in the patient is important because of different prognosis associated with each subtype. Alveolar rhabdomyosarcoma (ARMS) is a rare subtype and is characterized by two pathognomonic chromosome translocations that generate gene fusions involving the FOXO1 gene (also known as the FKHR gene):

• t(2;13)(q35;q14) resulting in PAX3-FOXO1 gene fusion, found in 75-80% of ARMS patients, and
• t(1;13)(p36;q14) resulting in PAX7-FOXO1 gene fusion, found in 10-15% of ARMS patients.

Above fusions found in ARMS are not found in embryonal or pleomorphic subtypes of rhabdomyosarcoma. These fusions can also be detected by more comprehensive RNA-based NGS analysis performed on fresh/frozen/FFPE tumor tissue (see Solid Tumor Fusion Analysis, test code: TUMFUSN). However, when fresh/frozen samples are not available to perform RT-PCR analysis and only a targeted ARMS-specific fusion detection is desired, this FISH analysis provides the ability to detect FOXO1 rearrangement using FFPE tissue or unstained FFPE slides. This FISH analysis can also be used when ARMS is suspected, but RT-PCR or NGS assay result was inconclusive for PAX3-FOXO1 or PAX7-FOXO1 fusion or could not yield result due to the poor quality/quantity of RNA from tumor tissue.

This FISH analysis will be performed using a break-apart probe for the FOXO1 locus to detect FOXO1 rearrangement. If FOXO1 rearrangement is detected, then reflex FISH analysis will be performed using PAX3-specific probe to detect PAX3-FOXO1 fusion. If PAX3 result is negative, then reflex FISH analysis will be performed using PAX7-specific probe to detect PAX7-FOXO1 fusion. Please note that in a small subset of tumors with FOXO1 fusions involving rare or novel gene partners, the FISH assay may not definitively identify the fusion parther. In such cases, the NGS assay (see Solid Tumor Fusion Analysis, test code: TUMFUSN) may be more informative.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, formalin-fixed paraffin-embedded (FFPE) tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen.

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue, FFPE tissue, or FFPE slides at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

This test is a FISH analysis performed on tumor specimens and identifies rearrangement (translocation) of the FOXO1 gene (also known as the FKHR gene) resulting in gene fusion with PAX3 or PAX7 gene, which is observed in alveolar subtype of rhabdomyosarcoma. Presence/absence of this gene fusion can aid in differentiation of rhabdomyosarcoma subtypes (embryonal, alveolar, or pleomorphic subtypes).

Rhabdomyosarcomas are the most common soft-tissue sarcoma in children under 15 years of age, and there are three subtypes: embryonal, alveolar, and pleomorphic. Identifying the subtype of rhabdomyosarcoma present in the patient is important because of different prognosis associated with each subtype. Alveolar rhabdomyosarcoma (ARMS) is a rare subtype and is characterized by two pathognomonic chromosome translocations that generate gene fusions involving the FOXO1 gene (also known as the FKHR gene):

• t(2;13)(q35;q14) resulting in PAX3-FOXO1 gene fusion, found in 75-80% of ARMS patients, and
• t(1;13)(p36;q14) resulting in PAX7-FOXO1 gene fusion, found in 10-15% of ARMS patients.

Above fusions found in ARMS are not found in embryonal or pleomorphic subtypes of rhabdomyosarcoma. These fusions can also be detected by more comprehensive RNA-based NGS analysis performed on fresh/frozen/FFPE tumor tissue (see Solid Tumor Fusion Analysis, test code: TUMFUSN). However, when fresh/frozen samples are not available to perform RT-PCR analysis and only a targeted ARMS-specific fusion detection is desired, this FISH analysis provides the ability to detect FOXO1 rearrangement using FFPE tissue or unstained FFPE slides. This FISH analysis can also be used when ARMS is suspected, but RT-PCR or NGS assay result was inconclusive for PAX3-FOXO1 or PAX7-FOXO1 fusion or could not yield result due to the poor quality/quantity of RNA from tumor tissue.

This FISH analysis will be performed using a break-apart probe for the FOXO1 locus to detect FOXO1 rearrangement. If FOXO1 rearrangement is detected, then reflex FISH analysis will be performed using PAX3-specific probe to detect PAX3-FOXO1 fusion. If PAX3 result is negative, then reflex FISH analysis will be performed using PAX7-specific probe to detect PAX7-FOXO1 fusion. Please note that in a small subset of tumors with FOXO1 fusions involving rare or novel gene partners, the FISH assay may not definitively identify the fusion parther. In such cases, the NGS assay (see Solid Tumor Fusion Analysis, test code: TUMFUSN) may be more informative.

This test is a FISH analysis performed on tumor specimens and identifies rearrangement (translocation) of the FOXO1 gene (also known as the FKHR gene) resulting in gene fusion with PAX3 or PAX7 gene, which is observed in alveolar subtype of rhabdomyosarcoma. Presence/absence of this gene fusion can aid in differentiation of rhabdomyosarcoma subtypes (embryonal, alveolar, or pleomorphic subtypes).

Rhabdomyosarcomas are the most common soft-tissue sarcoma in children under 15 years of age, and there are three subtypes: embryonal, alveolar, and pleomorphic. Identifying the subtype of rhabdomyosarcoma present in the patient is important because of different prognosis associated with each subtype. Alveolar rhabdomyosarcoma (ARMS) is a rare subtype and is characterized by two pathognomonic chromosome translocations that generate gene fusions involving the FOXO1 gene (also known as the FKHR gene):

• t(2;13)(q35;q14) resulting in PAX3-FOXO1 gene fusion, found in 75-80% of ARMS patients, and
• t(1;13)(p36;q14) resulting in PAX7-FOXO1 gene fusion, found in 10-15% of ARMS patients.

Above fusions found in ARMS are not found in embryonal or pleomorphic subtypes of rhabdomyosarcoma. These fusions can also be detected by more comprehensive RNA-based NGS analysis performed on fresh/frozen/FFPE tumor tissue (see Solid Tumor Fusion Analysis, test code: TUMFUSN). However, when fresh/frozen samples are not available to perform RT-PCR analysis and only a targeted ARMS-specific fusion detection is desired, this FISH analysis provides the ability to detect FOXO1 rearrangement using FFPE tissue or unstained FFPE slides. This FISH analysis can also be used when ARMS is suspected, but RT-PCR or NGS assay result was inconclusive for PAX3-FOXO1 or PAX7-FOXO1 fusion or could not yield result due to the poor quality/quantity of RNA from tumor tissue.

This FISH analysis will be performed using a break-apart probe for the FOXO1 locus to detect FOXO1 rearrangement. If FOXO1 rearrangement is detected, then reflex FISH analysis will be performed using PAX3-specific probe to detect PAX3-FOXO1 fusion. If PAX3 result is negative, then reflex FISH analysis will be performed using PAX7-specific probe to detect PAX7-FOXO1 fusion. Please note that in a small subset of tumors with FOXO1 fusions involving rare or novel gene partners, the FISH assay may not definitively identify the fusion parther. In such cases, the NGS assay (see Solid Tumor Fusion Analysis, test code: TUMFUSN) may be more informative.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, formalin-fixed paraffin-embedded (FFPE) tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen.

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue, FFPE tissue, or FFPE slides at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

This test is a FISH analysis performed on tumor specimens and identifies rearrangement (translocation) of the FOXO1 gene (also known as the FKHR gene) resulting in gene fusion with PAX3 or PAX7 gene, which is observed in alveolar subtype of rhabdomyosarcoma. Presence/absence of this gene fusion can aid in differentiation of rhabdomyosarcoma subtypes (embryonal, alveolar, or pleomorphic subtypes).

Rhabdomyosarcomas are the most common soft-tissue sarcoma in children under 15 years of age, and there are three subtypes: embryonal, alveolar, and pleomorphic. Identifying the subtype of rhabdomyosarcoma present in the patient is important because of different prognosis associated with each subtype. Alveolar rhabdomyosarcoma (ARMS) is a rare subtype and is characterized by two pathognomonic chromosome translocations that generate gene fusions involving the FOXO1 gene (also known as the FKHR gene):

• t(2;13)(q35;q14) resulting in PAX3-FOXO1 gene fusion, found in 75-80% of ARMS patients, and
• t(1;13)(p36;q14) resulting in PAX7-FOXO1 gene fusion, found in 10-15% of ARMS patients.

Above fusions found in ARMS are not found in embryonal or pleomorphic subtypes of rhabdomyosarcoma. These fusions can also be detected by more comprehensive RNA-based NGS analysis performed on fresh/frozen/FFPE tumor tissue (see Solid Tumor Fusion Analysis, test code: TUMFUSN). However, when fresh/frozen samples are not available to perform RT-PCR analysis and only a targeted ARMS-specific fusion detection is desired, this FISH analysis provides the ability to detect FOXO1 rearrangement using FFPE tissue or unstained FFPE slides. This FISH analysis can also be used when ARMS is suspected, but RT-PCR or NGS assay result was inconclusive for PAX3-FOXO1 or PAX7-FOXO1 fusion or could not yield result due to the poor quality/quantity of RNA from tumor tissue.

This FISH analysis will be performed using a break-apart probe for the FOXO1 locus to detect FOXO1 rearrangement. If FOXO1 rearrangement is detected, then reflex FISH analysis will be performed using PAX3-specific probe to detect PAX3-FOXO1 fusion. If PAX3 result is negative, then reflex FISH analysis will be performed using PAX7-specific probe to detect PAX7-FOXO1 fusion. Please note that in a small subset of tumors with FOXO1 fusions involving rare or novel gene partners, the FISH assay may not definitively identify the fusion parther. In such cases, the NGS assay (see Solid Tumor Fusion Analysis, test code: TUMFUSN) may be more informative.