Whole Exome Sequencing - Proband Only

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. Proband Only testing is exome sequencing for the patient only. Proband-only samples are acceptable when parental or other family member samples are not available.

Special Instructions

Not provided.

Limitations

This assay may not consistently detect mosaicism or large chromosomal aberrations such as rearrangements and inversions that do not change the copy number of genomic regions. The NGS assay does not detect repeat expansions and may produce false positive or negative results due to factors like rare genetic variants, sex chromosome abnormalities, and pseudogene interference. The assay is limited by the information available at the time of reporting and clinical information provided with the sample. Interpretation of clinical significance may change as more information becomes available.

Test Details