Special Instructions

The test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations. If the patient has undergone an allogeneic bone marrow or stem cell transplant prior to genetic testing or currently has a hematological condition with actively circulating tumor cells, testing a sample type that is not derived from blood (such as cultured fibroblasts from a skin biopsy) is warranted.

Limitations

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Sensitivity for insertions and deletions larger than 15bp but smaller than a full exon may be marginally reduced. Single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Structural rearrangements, such as inversions, gene conversion events, and translocations, or variants embedded in sequence with complex architecture, may not be detected. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay.

Biomarkers

Result Turnaround Time

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