ExomeDx™ Rapid – Proband
Use
The ExomeDx™ Rapid test delivers expedited exome sequencing intended for critically ill patients whose medical management may be altered by rapid molecular diagnosis. It provides provisional results with identified pathogenic or likely pathogenic variants in known disease‐causing genes within a shortened timeframe, with a full written report issued thereafter. This approach enables enhanced diagnostic yield, including detection of de novo, compound heterozygous, homozygous, heterozygous, and X‑linked variants, particularly when parental samples are included.
Special Instructions
Due to the rapid turnaround time, samples from the proband and both biological parents (when possible) should be submitted simultaneously, along with accompanying clinical information. If all required information or samples are unavailable at the time of submission, the laboratory should be notified via [email protected].
Limitations
Clinical sensitivity depends on the proband's phenotype. Although exome sequencing identifies a causal variant in 25–58% of cases in critically ill infants, results vary and variant confirmation may delay final reporting. These analytic limitations stem from variant interpretation according to ACMG guidelines and may require provisional reporting pending confirmation.
New York Approved
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
Samples from the proband and both biological parents should be submitted at same time.