MayoComplete Renal Cell Carcinoma with Fibromyomatous Stroma Panel, Next-Generation Sequencing, Tumor
Use
This test utilizes targeted next-generation sequencing to detect somatic mutations in the ELOC (TCEB1), TSC1, TSC2, and VHL genes, assisting in the diagnosis and classification of renal cell carcinoma with fibromyomatous stroma. It is also useful for the clinical management of patients with renal cell carcinoma, providing insights into tumor diagnosis and potential therapeutic options. The assay does not assess germline alterations within these genes, focusing solely on somatic mutations associated with the mentioned subtype of renal cell carcinoma.
Special Instructions
A pathology report must accompany the specimen, containing the patient name, block number, tissue collection date, and source of the tissue. When this test is ordered, a slide review will always be performed at an additional charge. Specimens must have at least 20% tumor nuclei, and specimens like formalin-fixed, paraffin-embedded tissue blocks or slides are accepted. Additional tests may be performed as part of the order, which could incur extra fees.
Limitations
This test detects single nucleotide variants (SNV) and small indels in the specified genes but does not identify larger-scale genomic copy number variants, multi-exon deletions, or epigenetic modifications. It is important to note that this assay does not distinguish between germline and somatic alterations. The test's analytical sensitivity is 5% mutant allele frequency with a minimum coverage of 500X. Improper specimen treatment such as decalcification may cause PCR failure, and variant allele frequency should be interpreted considering tumor heterogeneity and sequencing artifacts.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105591-2
- 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
36 mm(2) tissue
Container
Formalin-fixed, paraffin-embedded tissue block or slides
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with sufficient tumor tissue. Alternatively, submit slides with hematoxylin and eosin-staining and unstained slides.
Causes for Rejection
All specimens will be evaluated for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient preferred |