FH Gene Sequencing and Deletion/Duplication
Use
This test identifies pathogenic or likely pathogenic single-nucleotide variants as well as deletions and duplications in the FH gene, associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC), supporting diagnosis and risk assessment in individuals with clinical features (e.g., multiple cutaneous leiomyomas, early-onset uterine leiomyomas before age 40, renal cell carcinoma before age 40, or a close relative meeting these criteria) and guiding genetic counseling and testing strategy.
Special Instructions
Informed consent following genetic counseling is strongly recommended. Testing is most informative when performed in the youngest affected family member when feasible. If a familial mutation is known, consider the Hereditary Cancer Single Site(s) test (test code 93945). Prior to testing, insurance coverage and patient out-of-pocket responsibility will be verified; if estimated responsibility exceeds $100, the ordering provider or patient will be notified before proceeding.
Limitations
Variants of uncertain significance (VUS) may be reported, and their classification and interpretation may change over time; clinicians should periodically check for updates (e.g., via Quest’s VariantIQ). A negative result does not rule out risk in individuals with personal or family history; further testing for other hereditary cancer genes may be warranted. Regulatory or preauthorization delays, as well as incomplete order forms or health plan requirements, may lengthen turnaround time.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided