ExomeDx Rapid Trio
Use
ExomeDx Rapid Trio is a rapid exome sequencing test designed for critically ill patients where a fast molecular diagnosis can significantly impact medical management. It includes simultaneous sequencing of the proband and both biological parents (trio) to enhance variant interpretation, including identification of de novo, compound heterozygous, homozygous, heterozygous, and X‑linked variants. It leverages gene–phenotype associations and multiple databases (gnomAD, HGMD, ClinVar, OMIM) and applies ACMG guidelines for variant interpretation (PMID: 25741868) to maximize diagnostic yield, which in published studies ranges from 25%–58% and is higher when parents are included.
Special Instructions
Not provided.
Limitations
Clinical sensitivity depends on the proband’s phenotype and completeness of clinical/parental data. Rapid sequencing may require confirmatory testing; only reportable pathogenic or likely pathogenic variants are provided provisionally. Interpretation is limited to detectable variant types by exome sequencing and subject to limitations inherent to databases and variant calling pipelines.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit proband and both biological parents together.
Other tests from different labs that may be relevant