What is the POLARIS CET (Technical) TEST?
The POLARIS® Clinical Exome Test is a laboratory developed test and provides sequencing data using a custom Next Generation Sequencing (NGS) technology-based workflow. The 39 Mb target region includes coding sequences of 19,396 human genes that are found in the Refseq database. Sequencing data is processed using a custom POLARIS® Bioinformatics Pipeline, which involves sequence alignment to human reference assembly, data processing and variant calling using a standard genome analysis tool kit.
How are test requestors assured of the quality of the POLARIS Clinical Exome Test?
The POLARIS Clinical Exome Test was developed and validated in accordance with the College of American Pathologists (CAP) and Ministry of Health (MOH), Singapore, guidelines, within the CAP-accredited and PHMC licenced POLARIS Laboratory at Genome Institute of Singapore (POLARIS@GIS). A Technical Report is issued to indicate the sequencing quality parameters and sequencing data will be returned via secure means to the test requestor within 15 working days upon sample receipt. No variant annotation, curation, or clinical report is provided.
How will the POLARIS Clinical Exome Test results affect diagnosis and treatment options?
The POLARIS Clinical Exome Test has been validated to provide a comprehensive coverage of the human exome with more than 95% of the target bases covered at ≥ 30x and an average sequencing depth of ≥ 100x.It can detect single nucleotide variations (SNVs), small insertions and deletions (Indels), thus providing a global view of genomic alterations in a single test. This test is intended to assist in the diagnosis of rare undiagnosed genetic disorders as it provides more informative than targeted gene sequencing in a cost and time effective manner.
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