Status:
COMPLETED
Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test
Lead Sponsor:
Illumina, Inc.
Conditions:
Post-natal Cytogenetics
Eligibility:
All Genders
1+ years
Brief Summary
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 who...
Eligibility Criteria
Inclusion
- 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.
Exclusion
Key Trial Info
Start Date :
August 1 2011
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
November 1 2011
Estimated Enrollment :
900 Patients enrolled
Trial Details
Trial ID
NCT01426308
Start Date
August 1 2011
End Date
November 1 2011
Last Update
April 28 2016
Active Locations (3)
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1
Medical University of South Carolina
Charleston, South Carolina, United States, 29403
2
Baylor College of Medicine
Houston, Texas, United States, 77021
3
ARUP Laboratories
Salt Lake City, Utah, United States, 84108