FH Gene Sequencing and Deletion/Duplication
- Laboratory
- Quest Diagnostics
- Test code
- 38805
- Specimen
- Blood
- Fasting
- Not stated
- LOINC
- 49872-5, 69047-9, 77202-0, 8251-1, 8266-9
Laboratory assay overview
This test includes sequencing and deletion/duplication analysis of the FH gene. A pathogenic variant in the FH gene is consistent with a diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC). Individuals with HLRCC have an elevated risk of developing renal cell cancer and cutaneous and uterine leiomyomas. Individuals with HLRCC may rarely develop cutaneous and uterine leiomyosarcomas, pheochromocytomas, and paragangliomas.
View complete laboratory reference notes
See Laboratory Report
Quest Diagnostics test directory, test code 38805