MYOD1 Mutation Analysis, Next-Generation Sequencing, Tumor
Use
The test is useful for identifying specific mutations within the MYOD1 gene to assist in tumor diagnosis and classification. It helps in the clinical management of patients with spindle cell and sclerosing rhabdomyosarcoma. MYOD1-mutant spindle cell/sclerosing rhabdomyosarcoma is recognized as a distinct entity in the current classification of soft tissue tumors and is associated with a poor prognosis.
Special Instructions
Not provided.
Limitations
The test cannot differentiate between somatic and germline alterations. A negative result does not rule out the presence of a variant that may be below the assay's limits of detection. Multi-exon deletions, duplications, larger-scale genomic copy number variants, copy neutral loss of heterozygosity, or epigenetic modifications are not detected. DNA variants of uncertain significance might be identified, and misinterpretation can occur if information provided is inaccurate.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
MYOD1
Gene
LOINC Codes
- 105595-3 - MYOD1 targ gene mut anlyss Tiss
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Tumor Tissue (FFPE)
Volume
Not provided
Minimum Volume
36 mm(2)
Container
Formalin-fixed, paraffin-embedded tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with an adequate amount of tumor tissue.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.