Test Code: WESTRO
Whole Exome Sequencing (WES) - TRIO
Rare Diseases
Whole Exome Sequencing (WES) – TRIO involves sequencing and analysis of the protein‑coding regions (~20,000 genes) in the proband, alongside both biological parents. This trio approach enhances variant interpretation by distinguishing de novo, inherited, and compound heterozygous variants, thereby improving diagnostic yield in rare disease and complex genetic presentations.
Coverage: Whole exome regions (~20,000 genes), mitochondrial genome (chrM), and CNV spike‑in probes.
Coverage: Whole exome regions (~20,000 genes), mitochondrial genome (chrM), and CNV spike‑in probes.
Sample Type
Peripheral Blood in EDTA
Turnaround Time
21 -28 days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
Login to view pricing
Methodology
Next Generation Sequencing
Need Help with This Test?
Our team of board-certified genomic scientists is available to answer your questions about test selection, sample requirements, and result interpretation.