Whole Exome Sequencing - DUO (Proband)

Clinical Use

Use

Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified; thus, it has a higher chance to find the cause of a heritable disease. WES can be used if a patient has symptoms, which, after exhaustive testing, cannot be linked to a diagnosis and corrective treatment is necessary to change the prognosis. WES can also be used if, upon clinical presentation, multiple disease states may be suspected and a clinician wishes to improve his/her testing approach. Once a genetic variant has been identified, this information can then be linked back to the phenotype of the patient, which will improve the pathway to a correct diagnosis and a suitable treatment plan can be administered. DUO testing consists of a proband or patient sample, and one biological parent or family member in the case that both parents are not available for testing.

Special Instructions

Not provided.

Limitations

The assay used in the Whole Exome Sequencing - DUO (Proband) test may not consistently detect conditions such as mosaicism or large chromosomal aberrations like rearrangements and inversions that do not alter genomic copy number. It does not detect repeat expansions. Results may be affected by factors like rare genetic variants, pseudogene interference, blood transfusions, and tissue-specific mosaicism. Interpretation is limited by the current knowledge of variants at the time of reporting and the provided clinical information.

Test Details