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Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT

Recruitingn/aAges 0 Days - 17 YearsAllIstituto Giannina Gaslini
NCT07877688 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use of sequencing services at IIT, as well as through IGG's institutional research funding and clinical diagnostic budget. The study is therefore a single-center, translational, open-label cohort study. Biological samples from patients and their parents selected to undergo whole-exome sequencing (WES) or whole-genome sequencing (WGS) will be collected and stored within the respective Clinical Units of the Giannina Gaslini Institute, specifically in the DNA Biobank and its associated repositories. Both blood sampling to obtain DNA samples that are not yet available and the use of existing DNA samples will be subject to the informed consent of the individuals concer

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📋 Eligibility rules (as published)
Inclusion Criteria: * Patients affected by a rare genetic disease. * Patients for whom a clinical and/or molecular diagnosis has not yet been established. * The referring IGG clinician considers the clinical phenotype worthy of further investigation and suggestive of a genetic etiology. * The family consents to participate in the study, together with the affected individual, including undergoing WES and/or WGS and authorizing the use of the resulting data. Exclusion Criteria: * Failure to meet at least one of the inclusion criteria listed above. * Previous whole-genome sequencing (WGS).
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What it tests

  • Not listed
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Where

1 site
IRCCS Istituto Giannina Gaslini
Genova, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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