POLARIS Sanger Sequencing TEST

What is the POLARIS Sanger Sequencing TEST?

The POLARIS Sanger Sequencing Test is a qualitative test that directly reads out the DNA sequences of targeted positions. Sanger sequencing is a method of DNA sequencing based on the selective incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication. The test work flow includes the amplification of targeted genes, the ExoSAP-IT PCR Product Cleanup, the BigDye Terminator v3.1 Cycle Sequencing, the BigDye XTerminator Purification, and running of Capillary Electrophoresis on the SeqStudio Genetic Analyzer instrument (Applied Biosystems).

How are test requestors assured of the quality of the POLARIS Sanger Sequencing Test?

The POLARIS Sanger Sequencing 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 report is issued to indicate the confirmation of variants in the samples. The Turn-Around-Time (TAT) from the receipt of sample DNA to generate a variant report for this test will be: a. For variants within the validated variants list, within 10 working days. b. For variants beyond the validated variants list, within 15 working days.

How will the POLARIS Sanger Sequencing Test results affect diagnosis and treatment options?

The POLARIS Sanger Sequencing Test works as a confirmatory test, when confirmation of mutation status of key actionable genes is required, for any of POLARIS Next Generation Sequencing (NGS), or real-time PCR based tests. This test helps in the diagnosis of rare undiagnosed genetic disorders by confirming the presence or absence of candidate variants in a sample DNA.

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