Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test

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.

Study Overview

• Status: Completed
• Conditions: Post-natal Cytogenetics

• Study Type: Observational
• Enrollment (Actual): 900

Contacts and Locations

Study Locations

• United States
  • South Carolina
    • Charleston, South Carolina, United States, 29403
      • Medical University of South Carolina
  • Texas
    • Houston, Texas, United States, 77021
      • Baylor College of Medicine
  • Utah
    • Salt Lake City, Utah, United States, 84108
      • ARUP Laboratories

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 minute and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Leftover, de-identified DNA extracted from EDTA or heparin anticoagulated whole blood samples.

Description

Method Comparison - Sample Inclusion Criteria

The following are criteria for inclusion of extracted genomic DNA samples in the method comparison sample pool:

1. Sample is from a patient referred for post-natal cytogenetic testing.
2. Sample gender is known.
3. Sample quantity available for testing is ≥ 1 microgram of genomic DNA at a concentration of 60-80 nanograms per microliter (60-80ng/µl).
4. Sample is extracted genomic DNA from EDTA or heparin-anticoagulated whole blood.
5. 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.
6. Sample has been tested by a reference method. Acceptable reference methods include karyotype, FISH, qPCR, MLPA, and methylation analysis.

Method Comparison - Sample Exclusion Criteria

1. Sample is from a patient not referred for post-natal cytogenetic testing.
2. Sample is from a patient referred for cytogenetic oncology testing.
3. Sample quantity < 1 microgram of genomic DNA or less than 60 nanograms per microliter (60ng/µl).
4. Sample was improperly stored or was extracted from a sample that was improperly stored.
5. 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:

1. Sample gender is known.
2. Sample is from a patient not referred for post-natal cytogenetic testing.
3. 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).
4. Sample is extracted genomic DNA from EDTA or heparin-anticoagulated whole blood.
5. 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

1. Sample is from a patient referred for post-natal cytogenetic testing.
2. Sample quantity < 1 microgram of genomic DNA or less than 60 nanograms per microliter (60ng/µl).
3. Sample was improperly stored or was extracted from a sample that was improperly stored.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Retrospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Method Comparison Group; The method comparison group will consist of de-identified, leftover DNA samples from patients referred for post-natal cytogenetic testing.
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.

Collaborators and Investigators

• Sponsor: Illumina, Inc.

Study record dates

Study Major Dates

• Study Start: August 1, 2011
• Primary Completion (Actual): November 1, 2011
• Study Completion (Actual): November 1, 2011

Study Registration Dates

• First Submitted: August 29, 2011
• First Submitted That Met QC Criteria: August 30, 2011
• First Posted (Estimate): August 31, 2011

Study Record Updates

• Last Update Posted (Estimate): April 28, 2016
• Last Update Submitted That Met QC Criteria: April 26, 2016
• Last Verified: September 1, 2011

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Congenital Abnormalities; Genetic Diseases, Inborn; Chromosome Disorders; Chromosome Aberrations
• Other Study ID Numbers: Cyto-001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No