Special Instructions

The specific gene and variant(s) to be analyzed must be clearly indicated on the test requisition form to avoid delays in testing. Additionally, including a copy of the previously tested family member's laboratory report is recommended for proper documentation. It is advised to call the provided laboratory genetic coordinator contact number for any required guidance prior to submitting specimens. If prior testing was conducted at an external laboratory, submitting a positive control sample is highly recommended. All test orders must include an attestation that confirms the patient's informed consent for genetic testing has been obtained.

Limitations

This test does not detect germline mosaicism and cannot rule out the presence of large chromosomal aberrations such as rearrangements or gene fusions. It does not detect variants in genes not covered by this test or interactions between variants. The interpretation or classification of variants may change as more information becomes available over time. False positive or false negative results may occur due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplants, somatic or tissue-specific mosaicism, mislabeled samples, or errors in representing family relationships.

Biomarkers

LOINC Codes

Result Turnaround Time

Related Documents

Stability Requirements