FH
Use
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by mutations in the FH gene and is characterized by an increased risk of benign tumors of the skin and uterus (leiomyomata) as well as kidney cancer. FH analysis can detect more than 99.9% of described mutations in the gene, when present (analytic sensitivity).
Special Instructions
Not provided.
Limitations
Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not meeting quality thresholds are verified by Sanger sequencing. Clinically significant intronic findings beyond 5 base pairs are always reported.
Methodology
NGS (Targeted)
Biomarkers
FH
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Phlebotomy draw
Causes for Rejection
Allogenic bone marrow or peripheral stem cell transplant history.
Other tests from different labs that may be relevant