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Article History

Received: 11 September 2025

Accepted: 4 December 2025

First Online: 5 January 2026

Declarations

:

: The study was conducted in accordance with the Declaration of Helsinki. Written informed consent to participate has been obtained from all the participants and the parents/legal guardians of minors.Patients attending the Clinical Genetics service at St George's University Hospitals NHS Foundation Trust and the parents/legal guardians of minors were offered the opportunity to participate in a pilot study to implement exome sequencing into the South West Thames Regional Genetics Laboratory diagnostic pathway with a view to this becoming routine diagnostic care. The laboratory partnered with Congenica to develop the pathway and analysis. Consent for testing and analysis using the new technology was obtained as part of standard of care consent forms used by the Clinical Genetics Service. According to the UK Policy Framework for Health and Social Care Research the St George’s cases fall under the service development/improvement category for analysis of existing data generated from standard of care testing that the patients had consented to. The intervention did not involve randomization and patient management remained under standard of care professional practice. Ethical approval is deemed unnecessary for service evaluation/improvement/development work according the UK National Regulations outlined in the Health Research Authority policy of 2017 [ ].Written informed consent to participate at VUMC UDN site was obtained from all the participants and the parents/legal guardians of minors using UDN Institutional Review Board (IRB)-approved protocol (National Human Genome Research Institute [NHGRI]15-HG-0130, approved 11/13/2014). Informed consent including permission for publication of clinical information and photographs was obtained from all subjects. The study’s website is located at: ."Clinical trial number: not applicable.

: Not applicable.

: MMS is an employee and stockholder of SimulConsult. AH and AR were employees of Congenica. BK and JF are employees of Congenica. MM, ATD, JS, MGH, LCR, KME and JAP declare that they have no competing interests.AH and AR were employees of Congenica.BK and JF are employees of Congenica.MM, ATD, JS, MGH, LCR, KME and JAP declare that they have no competing interests.