Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test
This study is ongoing, but not recruiting participants.
Sponsor:
Illumina, Inc.
Information provided by (Responsible Party):
Illumina, Inc.
ClinicalTrials.gov Identifier:
NCT01426308
First received: August 29, 2011
Last updated: September 26, 2011
Last verified: September 2011
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Purpose
The study will determine the performance of the Infinium HD Test.
- The primary objective of the study is to assess the performance of the Infinium HD Test using banked DNA samples extracted from whole blood patient samples derived from the intended use population.
- The secondary objective of the study is to determine the background number of chromosomal abnormalities per person in the general population based on the resolution of the Infinium HD Test.
| Condition |
|---|
|
Post-natal Cytogenetics |
| Study Type: | Observational |
| Study Design: | Observational Model: Case-Only Time Perspective: Retrospective |
| Official Title: | Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test |
Resource links provided by NLM:
Further study details as provided by Illumina, Inc.:
| Estimated Enrollment: | 900 |
| Study Start Date: | August 2011 |
| Estimated Study Completion Date: | November 2011 |
| Estimated Primary Completion Date: | November 2011 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
Method Comparison Group
The method comparison group will consist of de-identified, leftover DNA samples from patients referred for post-natal cytogenetic testing.
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Clinical Specificity Group
The clinical specificity group will consist of de-identified, leftover DNA samples from non-phenotypic patients, or patients not referred for post-natal cytogenetic testing.
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Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Probability Sample |
Study Population
Leftover, de-identified DNA extracted from EDTA or heparin anticoagulated whole blood samples.
Criteria
Method Comparison - Sample Inclusion Criteria
The following are criteria for inclusion of extracted genomic DNA samples in the method comparison sample pool:
- Sample is from a patient referred for post-natal cytogenetic testing.
- Sample gender is known.
- Sample quantity available for testing is ≥ 1 microgram of genomic DNA at a concentration of 60-80 nanograms per microliter (60-80ng/µl).
- Sample is extracted genomic DNA from EDTA or heparin-anticoagulated whole blood.
- Sample has been stored at 2 to 8°C or -15 to -25°C for no greater than three years from the date of extraction.
- Sample has been tested by a reference method. Acceptable reference methods include karyotype, FISH, qPCR, MLPA, and methylation analysis.
Method Comparison - Sample Exclusion Criteria
- Sample is from a patient not referred for post-natal cytogenetic testing.
- Sample is from a patient referred for cytogenetic oncology testing.
- Sample quantity < 1 microgram of genomic DNA or less than 60 nanograms per microliter (60ng/µl).
- Sample was improperly stored or was extracted from a sample that was improperly stored.
- Sample was tested by an Illumina array during standard of care testing.
Clinical Specificity - Sample Inclusion Criteria
The following are criteria for inclusion of extracted genomic DNA samples in the clinical specificity sample pool:
- Sample gender is known.
- Sample is from a patient not referred for post-natal cytogenetic testing.
- Sample quantity available for testing is ≥ 1 microgram of genomic DNA at a concentration of at least 60-80 nanograms per microliter (60-80ng/µl).
- Sample is extracted genomic DNA from EDTA or heparin-anticoagulated whole blood.
- Sample has been stored at 2 to 8°C or -15 to -25°C for no greater than three years from the date of extraction.
Clinical Specificity - Sample Exclusion Criteria
- Sample is from a patient referred for post-natal cytogenetic testing.
- Sample quantity < 1 microgram of genomic DNA or less than 60 nanograms per microliter (60ng/µl).
- Sample was improperly stored or was extracted from a sample that was improperly stored.
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01426308
Locations
| United States, South Carolina | |
| Medical University of South Carolina | |
| Charleston, South Carolina, United States, 29403 | |
| United States, Texas | |
| Baylor College of Medicine | |
| Houston, Texas, United States, 77021 | |
| United States, Utah | |
| ARUP Laboratories | |
| Salt Lake City, Utah, United States, 84108 | |
Sponsors and Collaborators
Illumina, Inc.
More Information
No publications provided
| Responsible Party: | Illumina, Inc. |
| ClinicalTrials.gov Identifier: | NCT01426308 History of Changes |
| Other Study ID Numbers: | Cyto-001 |
| Study First Received: | August 29, 2011 |
| Last Updated: | September 26, 2011 |
| Health Authority: | United States: Institutional Review Board |
Additional relevant MeSH terms:
|
Congenital Abnormalities Chromosome Aberrations Chromosome Disorders Pathologic Processes Genetic Diseases, Inborn |
ClinicalTrials.gov processed this record on May 16, 2013