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Clinical trials
catalyst calendar across sponsors →Studies where ILMN is the lead sponsor, as filed with ClinicalTrials.gov. Completion dates are the sponsor's own projected windows and are revised as a study runs. Active studies first, then completed and stopped — newest readout first within each.
3 interventional · 9 observational · 1 with posted results
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| Study | Phase | Status | Interventions | Conditions | Enrollment | Primary completion | Updated |
|---|---|---|---|---|---|---|---|
| CardioSeq: Impact of WGS in Individuals With CVDNCT05656183Number of patients who receive a new monogenic cardiovascular disease findingOpen-label · Screening | Not applicable | Unknown status | Diagnostic test: TruGenome Cardiovascular Disease test | Cardiovascular Diseases | 1,500 | Dec 2024 | 2024-04-30 |
| NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult NeurologyNCT04170985observationalDiagnostic Yield between cWGS and SOC testing | — | Completed | Other: clinical Whole Genome Sequencing | Neurologic Deficits, Neurologic Disorder, Neurologic Abnormalities | 160 | 2024-01-31actual | 2024-05-01 |
| iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset DisordersNCT05049967observationalBased on analysis of data from completed clinical utility evaluation surveys following receipt of study results by the PI, assess whether a patient's change of management resulted from the multi-omic results | — | Unknown status | — | Genetic Disease | 150 | 2021-12-10actual | 2024-04-30 |
| Evaluation of the COVIDSeq Test in Saliva Specimens From COVID-19 Asymptomatic Illumina PersonnelNCT04561089observationalPositive percent agreement (PPA) and negative percent agreement (NPA) between the COVIDSeq Test and a comparator EUA test for the detection of SARS-CoV-2 RNA | — | Completed | Diagnostic test: COVIDSeq Test | SARS-CoV-2 | 763 | 2021-02-28actual | 2022-01-21 |
| Evaluation of the COVIDSeq Test in Nasal Swab and Saliva From a COVID-19 Asymptomatic PopulationNCT04561102observationalPositive percent agreement (PPA) and negative percent agreement (NPA) between the COVIDSeq Test and a comparator EUA test for the detection of SARS-CoV-2 RNA | — | Completed | Diagnostic test: Diagnostic test for detection of SARS-CoV-2 | SARS-CoV-2 | 644 | 2021-02-28actual | 2022-01-21 |
| A Study Collecting Blood Samples From Pregnant Women to Aid in the Development of a Noninvasive Prenatal TestNCT03620110observationalAbsence of chromosomal aneuploidy | — | Completed | — | Pregnancy | 2,209 | 2019-12-30actual | 2020-01-14 |
| Collection of Whole Blood Specimens in Pregnant WomenNCT03590678observationalCollect Whole Blood Specimens in Pregnant Women | — | Completed | — | Pregnancy Related | 3,000 | 2019-08-30actual | 2022-05-05 |
| NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and InfantsNCT03290469A difference in Change of Management between the 15 day cWGS and standard of care groupsRandomized · Triple-masked · Other | Not applicable | Completed | Other: clinical whole genome sequencing (cWGS) | Rare Diseases | 355 | 2019-04-30actual | 2020-11-18 |
| Development of a Next Generation Sequencing (NGS) -Based Assay to Detect Preeclampsia Molecular MarkersNCT02808494observationalcfRNA markers associated with preeclampsia with severe features and/or fetal growth restrictions | — | Completed | — | Preeclampsia | 242 | 2017-11-20actual | 2022-04-29 |
| Single Embryo TrAnsfeR of Euploid EmbryoNCT02268786results2020-05-04Ongoing PregnancyRandomized · Single-masked · Screening | Not applicable | Completed | Other: Preimplantation Genetic Screening by NGS | Infertility, Aneuploidy | 661 | 2016-12-31actual | 2020-05-13 |
| Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality TestNCT01426308observational | — | Completed | — | Post-natal Cytogenetics | 900 | Nov 2011actual | 2016-04-28 |
| Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNANCT00959504observational | — | Completed | — | Detection and Genotyping of Factor V and Factor II Point Mutations | 275 | Sep 2009actual | 2011-06-09 |
Primary completion is the date the sponsor filed with the registry — their own projection, revised whenever they revise it, unless the row is marked actual.
Source: ClinicalTrials.gov, retrieved 2026-08-19