Special Instructions

Not provided.

Limitations

The test may not detect variants in noncoding or deep intronic regions, nor reliably identify changes in repetitive elements like microsatellite repeats. It cannot reliably detect mosaic variants, inversions, or certain genomic rearrangements such as transposable element insertions. Allele drop-out due to rare variants under primer sites or homopolymeric regions can also affect results. The analysis is incapable of establishing whether two heterozygous variants are on the same or different chromosome copies. Copy number variations assessments might miss certain genomic alterations like translocations, inversions, or partial exon rearrangements. The presence of pseudogenes may interfere with detecting variants, particularly in PMS2, where pseudogenes like PMS2CL could complicate results without correlating to conditions like Lynch syndrome. The test isn't intended to detect somatic variants; factors like bone marrow transplantation might also impact results.

Biomarkers

LOINC Codes

Result Turnaround Time

Related Documents

Stability Requirements