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
A pathology report containing patient name, block number, tissue collection date, and source of tissue must accompany the specimen. The assay requires at least 20% tumor nuclei; preferred tumor area is 216 mm² with minimum 36 mm². Tissue must be fixed in 10% neutral buffered formalin and not decalcified.
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
LOINC Codes
- 95785-2
- 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 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) |