Exome Sequencing

Casandra

Casandra Test Code AR69922Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3016583CPT Codes 81415, 81416

Also known as: EXOME PRO

Clinical Use

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Use

Exome Sequencing is used to determine the etiology of a patient's symptoms if a Mendelian genetic condition is suspected. This test is helpful in identifying genetic variants that could be causative for suspected genetic syndromes, developmental delays, intellectual disabilities, or autism spectrum disorders. The exome includes approximately 85% of genetic disease-causing variants, which allows for the detection of known nuclear gene-associated variations. Parental control specimens can enhance the diagnostic yield, and it's particularly recommended when there's a need to understand inherited risks or confirm clinical suspicions through genetic evidence.

Special Instructions

Submission of a completed Exome Sequencing Intake Form is required for processing. Two parental controls are recommended to accompany the proband’s sample; these should be ordered using Exome Sequencing, Familial Control (ARUP test code 3016589) and submitted within 7 days. Contact ARUP's genetic counselor at 800-242-2787 ext. 2141 before test submission for any additional guidance. This test is not approved for New York state clients; use a New York-approved laboratory instead.

Limitations

Exome sequencing analyzes the coding regions and intron-exon boundaries of targeted genes, but might not detect all genetic disorders as it excludes non-coding regions, regulatory regions, deep intronic variants, and large deletions or duplications. Technical limitations impact regions with pseudogenes, repetitive sequences, or homologous regions. The test may not identify low-level somatic mutations, which are better suited for alternate methods. Interpretation can be affected by incorrect family member reporting or prior stem cell transplant in the patient.

Test Details