B-Catenin Mutation Analysis, Next-Generation Sequencing, Tumor
Use
This test is useful for distinguishing desmoid-type fibromatosis from other soft tissue tumors by assessing gene targets within the beta-catenin (CTNNB1) gene. It uses targeted next-generation sequencing to evaluate for somatic mutations. The test focuses specifically on the beta-catenin gene, which is known to be associated with desmoid-type fibromatosis. Mutations in exon 3 of the CTNNB1 gene have been identified in a significant percentage of desmoid-type fibromatosis cases and can aid in the diagnosis and prognosis of this condition.
Special Instructions
A pathology report containing patient name, block number, tissue collection date, and source must accompany the specimen. Unused unstained slides or cytology slides will not be returned. The assay requires tumor specimens with at least 20% tumor nuclei, and specimens must be formalin-fixed and paraffin-embedded, not decalcified. Cytology slides must have a preferred total of 5000 nucleated cells. Test results should be interpreted in conjunction with clinical, histopathological, and other laboratory data for accuracy.
Limitations
The test cannot differentiate between somatic and germline alterations. It detects point mutations and small deletion-insertion mutations in the CTNNB1 gene but does not detect multi-exon deletions or duplications. Analytical sensitivity is 5% mutant allele frequency with at least 500x coverage. The test may not detect mutations present below this limit. Reliable results depend on adequate specimen collection and processing, and decalcification may cause PCR failure. DNA variants of uncertain significance may be identified, and negative results do not rule out the presence of variants below detection limits.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103678-9
- 82939-0
- 69047-9
- 48767-8
- 31208-2
- 80398-1
- 85069-3
- 62364-5
- 18771-6
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Formalin-fixed, paraffin-embedded block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with sufficient tumor tissue.
Causes for Rejection
Improper specimen collection or handling, inadequate tumor nuclei content.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient preferred |