APC Sequencing and Deletion/Duplication
Use
This test analyzes single‑nucleotide variants, deletions, and duplications in the APC gene to identify individuals with a suspected diagnosis of familial adenomatous polyposis (FAP) and attenuated familial adenomatous polyposis (AFAP). Indicated for individuals with personal or family history of ≥20 colorectal adenomas, colorectal cancer, duodenal adenomas or cancer, papillary thyroid cancer, hepatoblastoma, desmoid tumor, or multifocal congenital hypertrophy of the retinal pigment epithelium (CHRPE). Informed consent and genetic counseling are recommended. (Quest Diagnostics FAQ)
Special Instructions
Sample reports and information regarding the specific variants analyzed are available on QuestHereditaryCancer.com. Informed consent following genetic counseling is strongly recommended. Orders missing complete information may be delayed; a team will verify insurance coverage and notify if estimated out‑of‑pocket exceeds $100. (FAQ)
Limitations
This test is limited to variants in the APC gene and cannot detect causes of hereditary predisposition outside this gene. It does not analyze every region associated with hereditary cancer; rare or novel variants may remain of uncertain significance. False‑positive or false‑negative results may occur; interpretation should consider clinical and family context. Variant classifications may change over time; review regularly. (Quest FAQ)
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