Special Instructions

Family variant testing is available at no additional cost for all blood relatives of patients who undergo full single-gene sequencing, multigene panel testing, or exome sequencing and are found to have a pathogenic or likely pathogenic variant. This testing must be completed within 90 days of the initial report date. More closely related relatives should be tested before more distant ones. Family testing services are only available to patients receiving medical care in the U.S or U.S territories.

Limitations

The genetic analysis for juvenile polyposis syndrome targets coding exons 1-11 of the BMPR1A and SMAD4 genes, along with adjacent intronic nucleotides. Gross deletion/duplication analysis is conducted to determine gene copy number. The methodologies used, such as next generation sequencing and multiplex ligation-dependent probe amplification, while highly effective, may not detect all possible variants. Intronic variants beyond 5 base pairs are not reported unless they are of clinical significance. Potential false-negative results are a possibility if there are areas of the genome not covered by current testing methods, or due to technical limitations like insufficient read depth in complex regions.

Biomarkers

Result Turnaround Time

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