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

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.

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.