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

Illumina

Status: Completed

Conditions: Post-natal Cytogenetics

Study type: Observational

Funder types: Industry

Identifiers

NCT01426308

Cyto-001

Details and patient eligibility

About

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.

Enrollment: 900 patients

Sex: All

Ages: 1+ minute old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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.

Trial design

900 participants in 2 patient groups

Method Comparison Group

Description:

The method comparison group will consist of de-identified, leftover DNA samples from patients referred for post-natal cytogenetic testing.

Clinical Specificity Group

Description:

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.