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
We offer family variant testing at no additional cost for blood relatives of patients who undergo testing at Ambry Genetics and have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date. Family testing is only applicable to patients receiving medical care in the U.S. or US territories.
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
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.