FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor
Use
This test assists in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets within the FOXL2 gene. Granulosa cell tumors represent approximately 5% to 10% of all ovarian malignancies and are the most common type of malignant ovarian sex-cord stromal tumors. The FOXL2 gene point mutation c.402C>G in exon 1 (p.C134W) has been reported in the majority of adult GCT (>90%). Detection of a FOXL2 mutation can aid in diagnosis where histopathology presents challenges.
Special Instructions
Not provided.
Limitations
The test cannot differentiate between somatic mutations and germline alterations, and additional testing may be necessary. A negative result does not rule out presence of a variant below the assay's detection limit. The test detects SNVs in the FOXL2 gene but does not detect multi-exon deletions, duplications, or copy number variants. Analytical sensitivity is 5% mutant allele frequency with 500X coverage and 20% tumor content.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
Gene
LOINC Codes
- 95785-2 - FOXL2 Mut Anl 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
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Formalin-fixed, paraffin-embedded tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |