APC seq and del/dup
Use
APC sequencing and deletion/duplication analysis evaluates the coding exons 1-15 and relevant intronic regions. It helps in identifying harmful mutations associated with familial adenomatous polyposis, a colorectal cancer predisposition syndrome. The test provides insights into polyposis-related genetic alterations, aiding in risk assessment and management of patients with potential hereditary cancer syndromes.
Special Instructions
All promoter 1B gross deletions and single nucleotide substitutions within the promoter 1B YY1 binding motif are analyzed. Clinically significant intronic findings beyond 5 base pairs are reported. Testing must be completed within 90 days of the original report date for any family variant testing at no additional cost for qualifying relatives.
Limitations
Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is based on NGS technology. Variants in regions complicated by pseudogene interference, or failing depth of coverage and variant allele frequency quality thresholds, require verification by Sanger sequencing. Intronic variants beyond 5 base pairs from the splice junction without clinical significance are typically not reported.
Methodology
NGS
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
Genomic DNA is isolated from the patient’s specimen using standardized methodology.