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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Illumina, Inc.
ClinicalTrials.gov Identifier:
NCT01426308
First received: August 29, 2011
Last updated: April 26, 2016
Last verified: September 2011
  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

Further study details as provided by Illumina, Inc.:

Enrollment: 900
Study Start Date: August 2011
Study Completion Date: November 2011
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.
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.

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
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:

  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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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

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: April 26, 2016
Health Authority: United States: Institutional Review Board
Individual Participant Data  
Plan to Share IPD: No

Additional relevant MeSH terms:
Chromosome Aberrations
Chromosome Disorders
Pathologic Processes
Congenital Abnormalities
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on July 21, 2016