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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Sequencing Clear all
Completed No phase listed Observational Accepts healthy volunteers

Study to Identify the Genetic Variations Associated With Phantom Limb Pain

NCT01462448
View directory record Official record
Conditions
Phantom Limb
Interventions
Blood Draw
Procedure
Lead sponsor
Henry M. Jackson Foundation for the Advancement of Military Medicine
Other
Eligibility
18 Years and older
Enrollment
726 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 11, 2025 · Synced Sep 14, 2026, 2:01 PM EDT
Recruiting Not applicable Interventional

Washington University Participant Engagement and Cancer Genomic Sequencing Center (WU-PE-CGS)

NCT06340646
View directory record Official record
Conditions
Cholangiocarcinoma, Multiple Myeloma, Colon Cancer, Rectal Cancer
Interventions
Return of Genetic Results: Biomarker information from cancer cells, Return of Genetic Results: Inherited mutations related to cancer, Return of Genetic Results: Inherited mutations related to other medical issues
Other
Lead sponsor
Washington University School of Medicine
Other
Eligibility
18 Years and older
Enrollment
990 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Recruiting No phase listed Observational

Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies

NCT03610802
View directory record Official record
Conditions
Primary Immunodeficiency
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
1 Day to 99 Years
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2038
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Active, not recruiting No phase listed Observational

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

NCT03458962
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome
Interventions
Genetic Enrollees
Genetic
Lead sponsor
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Other
Eligibility
Up to 21 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2070
U.S. locations
1
States / cities
Miami, Florida
Source: ClinicalTrials.gov public record
Updated Aug 23, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Recruiting No phase listed Observational

Familial Investigations of Childhood Cancer Predisposition

NCT03050268
View directory record Official record
Conditions
Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML, BAP1 Tumor Predisposition Syndrome, Carney Complex, Choroid Plexus Carcinoma, Constitutional Mismatch Repair Deficiency Syndrome, Diamond-Blackfan Anemia, DICER1 Syndrome, Dyskeratosis Congenita, Emberger Syndrome, Familial Acute Myeloid Leukemia, Familial Adenomatous Polyposis, Fanconi Anemia, Familial Cancer, Familial Wilms Tumor, Familial Neuroblastoma, GIST, Hereditary Breast and Ovarian Cancer, Hereditary Paraganglioma-Pheochromocytoma Syndrome, Hodgkin Lymphoma, Juvenile Polyposis, Li-Fraumeni Syndrome, Lynch Syndrome, MDS, Melanoma Syndrome, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Neuroblastoma, Neurofibromatosis Type 1, Neurofibromatosis Type II, Nevoid Basal Cell Carcinoma Syndrome, Non Hodgkin Lymphoma, Noonan Syndrome and Other Rasopathy, Overgrowth Syndromes, Pancreatic Cancer, Peutz-Jeghers Syndrome, Pheochromocytoma/Paraganglioma, PTEN Hamartoma Tumor Syndrome, Retinoblastoma, Rhabdoid Tumor Predisposition Syndrome, Rhabdomyosarcoma, Rothmund-Thomson Syndrome, Tuberous Sclerosis, Von Hippel-Lindau Disease
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2037
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Enrolling by invitation No phase listed Observational

Embryo Assessment Utilizing Timelapse Imaging in Conjunction With Preimplantation Genetic Testing for Aneuploidy With Next Generation Sequencing

NCT06419127
View directory record Official record
Conditions
Infertility, Female, Infertility, Male, Infertility, IVF, Aneuploidy
Interventions
Timelapse incubation and PGT
Diagnostic Test
Lead sponsor
Gattaca Genomics
Industry
Eligibility
18 Years to 50 Years
Enrollment
2,000 participants
Timeline
2025 – 2033
U.S. locations
1
States / cities
Fort Lauderdale, Florida
Source: ClinicalTrials.gov public record
Updated Jan 28, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Terminated No phase listed Observational

A Clinical Test for the Treatment of Multifocal Lung Cancers Using Genome Sequencing

NCT02705404
View directory record Official record
Conditions
Lung Neoplasms, Carcinoma Non-small-cell Lung
Interventions
Multifocal Tissue Banking
Genetic
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2021
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 13, 2022 · Synced Sep 14, 2026, 2:01 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

NCT02927158
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
University of Pittsburgh
Other
Eligibility
Up to 100 Years
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2040
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 9, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Newborn Genomic Sequencing Pilot Study

NCT06276348
View directory record Official record
Conditions
Genetic Disease
Interventions
Whole genome sequencing, BeginNGS test, WES
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 10 Days
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Nov 13, 2024 · Synced Sep 14, 2026, 2:01 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Study of ALS Reversals 2: Genetic Analyses

NCT03464903
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
26 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2023
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 10, 2024 · Synced Sep 14, 2026, 2:01 PM EDT
Completed No phase listed Observational

Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

NCT01369953
View directory record Official record
Conditions
Coronary Artery Disease, Proteus Syndrome, Coffin - Sins Syndrome, Familial Isolated Hyperparathyroidism, Dubouitz Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 25, 2018 · Synced Sep 14, 2026, 2:01 PM EDT
Completed No phase listed Observational

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NCT01375543
View directory record Official record
Conditions
Genetic Predisposition
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
128 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 5, 2020 · Synced Sep 14, 2026, 2:01 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Rapid Whole Genome Sequencing Study

NCT03385876
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome
Interventions
Genomic sequencing and molecular diagnostic results, if any
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2050
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Dec 22, 2021 · Synced Sep 14, 2026, 2:01 PM EDT
Active, not recruiting No phase listed Observational

Genetic Analysis in Blood and Tumor Samples From Patients With Advanced or Metastatic Estrogen Receptor Positive and HER2 Negative Breast Cancer Receiving Palbociclib and Endocrine Therapy

NCT03281902
View directory record Official record
Conditions
Advanced Breast Carcinoma, Locally Advanced Breast Carcinoma, Metastatic Breast Carcinoma, Recurrent Breast Carcinoma, Stage III Breast Cancer AJCC v7, Stage IIIA Breast Cancer AJCC v7, Stage IIIB Breast Cancer AJCC v7, Stage IIIC Breast Cancer AJCC v7, Stage IV Breast Cancer AJCC v6 and v7
Interventions
Biopsy, Biospecimen Collection, Laboratory Biomarker Analysis
Procedure · Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older · Female only
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 8, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Completed No phase listed Observational Results available

Alpha-1 Carrier Genomics Study

NCT02810327
View directory record Official record
Conditions
Alpha-1 Antitrypsin Deficiency, Emphysema, COPD, Smoking
Interventions
Genetic Sequencing
Genetic
Lead sponsor
Medical University of South Carolina
Other
Eligibility
18 Years and older
Enrollment
117 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated Jul 21, 2019 · Synced Sep 14, 2026, 2:01 PM EDT
Recruiting No phase listed Observational

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

NCT02077894
View directory record Official record
Conditions
Genetic Eye Disease
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 7, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Collection of Serum and Tissue Samples From Patients With Biopsy-Proved or Suspected Malignant Disease

NCT00026884
View directory record Official record
Conditions
Malignant Neoplasms, Hereditary Neoplastic Syndromes, Kidney Cancer, Renal Cancer, Bladder Cancer
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years and older
Enrollment
5,950 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1998
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 27, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

IN-TANDEM Familial Hypercholesterolemia Pilot Study

NCT03253432
View directory record Official record
Conditions
Familial Hypercholesterolemia
Interventions
Genetic testing
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
378 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
2
States / cities
Lancaster, Pennsylvania • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 27, 2019 · Synced Sep 14, 2026, 2:01 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
View directory record Official record
Conditions
Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions
Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
Genetic
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Hour to 5 Years
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 7, 2020 · Synced Sep 14, 2026, 2:01 PM EDT
Enrolling by invitation Not applicable Interventional

Genome Sequencing in the Intensive Care Unit Population

NCT04848090
View directory record Official record
Conditions
Infant, Newborn, Disease, Genetic Disease
Interventions
Neonate WGS Testing
Diagnostic Test
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
Up to 1 Year
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 8, 2026 · Synced Sep 14, 2026, 2:01 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Cancer Health Assessments Reaching Many

NCT03426878
View directory record Official record
Conditions
Hereditary Cancer Syndrome
Interventions
Modified genetic counseling, Traditional genetic counseling
Other
Lead sponsor
Kaiser Permanente
Other
Eligibility
18 Years to 49 Years
Enrollment
967 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2022
U.S. locations
2
States / cities
Denver, Colorado • Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Sep 10, 2025 · Synced Sep 14, 2026, 2:01 PM EDT
Terminated Not applicable Interventional Results available

Genetic Sequencing-Informed Targeted Therapy in Treating Patients With Stage IIIB-IV Non-small Cell Lung Cancer

NCT02132884
View directory record Official record
Conditions
Malignant Pericardial Effusion, Malignant Pleural Effusion, Recurrent Non-small Cell Lung Cancer, Stage IIIB Non-small Cell Lung Cancer, Stage IV Non-small Cell Lung Cancer
Interventions
cytology specimen collection procedure, therapeutic procedure, targeted therapy, laboratory biomarker analysis
Other · Procedure · Drug
Lead sponsor
Fox Chase Cancer Center
Other
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 3, 2019 · Synced Sep 14, 2026, 2:01 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901
View directory record Official record
Conditions
Genetic Disorders
Interventions
Whole Genome Sequencing, Carrier status testing
Genetic
Lead sponsor
Kaiser Permanente
Other
Eligibility
21 Years to 50 Years
Enrollment
384 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 16, 2019 · Synced Sep 14, 2026, 2:01 PM EDT
Active, not recruiting Not applicable Interventional

Hydrops: Diagnosing & Redefining Outcomes With Precision Study

NCT03412760
View directory record Official record
Conditions
Hydrops Fetalis, Birth Defect, Fetal Anomaly
Interventions
Exome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 55 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Sep 14, 2026, 2:01 PM EDT