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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

900 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-08-31

Study Completion Date

2011-11-30

Brief Summary

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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.

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Detailed Description

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Conditions

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Post-natal Cytogenetics

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Study Groups

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Method Comparison Group

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

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

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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.

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.

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.

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.

Minimum Eligible Age

1 Minute

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes