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RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.

RNAseq for the Evaluation of Splicing and Cryptic or Unrecognized Effects

Who can join

Ages 2 and older · All sexes

Inclusion Criteria:

* individuals who have previously undergone gene panel testing, WES or WGS with no diagnostic findings but with high suspicion for a genetic etiology
* individuals who have undergone genetic testing and who are found to have a truncating variant classified as pathogenic in a disease-causing gene but lack many/all symptoms typically associated with the disorder.

Exclusion Criteria:

* none

About the study

The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone. Participants will be asked to share their medical history and prior genetic testing results, and to donate a blood sample for testing.

What is being tested

• RNA sequencing (device)

Sponsor: University of California, San Francisco · Participants: 100 · Started: Aug 6, 2025

Contact the study team

• Janice Light · Phone: 415-502-6184

Official record on ClinicalTrials.gov — NCT07787975

Locations in the U.S.

Conditions

• Genetic Disorders

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.