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