GenetiSure Dx Postnatal Assay Technical Information

Designed for what matters

• Genetisure Dx Postnatal Array is designed to allow the identification of copy number and copy neutral changes across the entire genome.
• Each microarray contains approximately 107,000 probes optimized for copy number (CN) analysis, and 59,000 bi-allelic SNP probes.
• The CN probes are distributed across the entire genome with a higher density in regions designated to be of clinical interest.
• Oligonucleotide quality allows CN calls with as low as 5 consecutive probes

Assay resolution, not only numbers

• The probes are distributed on the array, targeting overall 94% of the genome with at least 5 CN probes per 400 kb, resulting in a median resolution of approx. 150Kb.
• Regions identified to be clinically relevant are targeted with increased probe density resulting in a median resolution of approximately 25Kb.
• The SNP probes, for LOH and UPD detection, target 91% of the genome with at least 100 or more SNP probes for 10 Mb, resulting in a median resolution for LOH of approx. 8Mb.
• Assay is able to detect mosaic amplifications and deletions spanning 100 or more probes

Built-in Quality Controls

The Genetisure Postnatal Dx Assay includes a series of in-process QC checks that allow the user to easily monitor and assess the quality of results. The controls include:

• Validated reference DNA
• Array QC metrics
• Workflow QC checkpoint

Assay workflow validated for the laboratory

The Assay is comprehensive and easy to implement in the laboratory routine.

• Only 500ng of genomic DNA are required for testing, extracted from 200µl of whole blood
• The accuracy of GenetiSure Dx Postnatal Assay results is not affected by increased levels of hemoglobin, conjugated bilirubin, unconjugated bilirubin and triglycerides in the patient’s whole blood in EDTA or by conservation of blood up to 7 days.
• The workflow is fully optimized and easy to set up. Segregation of lab space is not required as there is no PCR amplification steps.
• The whole protocol, including interpretation, can be run in 3 days.