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FOXO1 (FKHR) Rearrangement Detection by FISH
Clinical Genetic Test
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offered by
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's test page
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GTR Test Accession: Help GTR000597222.1
CANCERINHERITED DISEASE
Registered in GTR: 2021-12-14
View version history
Last annual review date for the lab: 2024-06-14 LinkOut
At a Glance
Test purpose: Help
Therapeutic management
Conditions (1): Help
Alveolar rhabdomyosarcoma
Genes (3): Help
FOXO1 (13q14.11); PAX3 (2q36.1); PAX7 (1p36.13)
Methods (1): Help
Cytogenetics - FISH-metaphase: Fluorescence in situ hybridization (FISH)
Target population: Help
Patients diagnosed with alveolar rhabdomyosarcoma (ARMS)
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's website
View lab's test page
Test short name: Help
FOXO1 FISH
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
FISHFKHR
View other test codes
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g., Patient Name and Date of Birth). Please Submit disease involved sample with a completed requisition form and a pathology report documenting the diagnosis.
Order URL
Informed consent required: Help
No
Test strategy: Help
FOXO1 break apart FISH analysis performed. If positive, reflex to PAX3 fusion FISH will be performed next. If negative for PAX3-FOXO1 fusion, the PAX7 fusion FISH will be performed to evaluate for PAX7-FOXO1 fusion.
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
FISH-metaphase
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Therapeutic management
Target population: Help
Patients diagnosed with alveolar rhabdomyosarcoma (ARMS)
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This assay detects >99% of FOXO1 gene fusion rearrangement present in tumor cells in sample that harbor this rearrangement if sample meets specimen requirement for specimen volume, quality, and sufficient % tumor content.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Laboratory's policy on reporting novel variations Help
Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.