Special Instructions

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. A hereditary cancer clinical questionnaire should be submitted with specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing. Saliva collection requires an Oragene Dx 500 kit. Avoid eating, drinking, smoking, or chewing gum 30 minutes prior to saliva sample collection.

Limitations

Sequencing is limited to the coding region and flanking splice sites (+/-10bp). Variants in noncoding regions, deep intronic variants, and changes in repetitive elements such as microsatellite repeats may not be detected. Mosaic variants, inversions, or some genomic rearrangements like transpositions may go undetected. The method could be impacted by allele drop-out if a rare variant is present at a primer site. Copy number analyses may not detect all genomic rearrangements, such as translocations or some exon rearrangements. The assay cannot determine the exact breakpoints of detected deletions or duplications, and pseudogenes may interfere with variant detection in certain genes like PMS2.

Biomarkers

LOINC Codes

Result Turnaround Time

Related Documents

Stability Requirements