FH Mutation Analysis, Next-Generation Sequencing, Tumor
Use
Identifying specific mutations within the FH gene to assist in tumor diagnosis and classification, including conditions like renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma. This test helps in documenting an underlying disease-causing alteration of the FH gene, recognized in the WHO Classification of Tumours for fumarate hydratase-deficient renal cell carcinoma.
Special Instructions
Not provided.
Limitations
This test cannot differentiate between somatic mutations and germline alterations. It does not assess large genomic changes, such as multi-exon deletions or epigenetic modifications like promoter methylation. Results should be interpreted in conjunction with clinical, tumor sampling, and histopathological information, with attention to potential interfering substances. Misinterpretation may occur if information provided is incomplete.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 49872-5 - FH gene Mut Anl Bld/T
- 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
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue with at least 20% tumor nuclei.
Causes for Rejection
Improper treatment of tissues, such as decalcification, may cause PCR failure.