FAQs

Blueprints’ Screening tests differ from other tests available on the market in many ways. We run the screening tests with the same high quality and accuracy as our diagnostic panels. Moreover, all target regions of the genes, including a specified set of deep intronic variants, are analysed to ensure we don’t miss a variant that could cause a disease (exception: CYP21A2 gene, with pre-selected list of variants). For more information, please refer to the Residual Risk Table. Our customer- friendly report provides a comprehensive result regarding the tested conditions with a section covering recommended follow-up actions. Also, our tests contain a carefully curated set of genes associated with medical conditions that can be prevented or treated when discovered early. We call it actionable result – the one you can act upon.

Once the sample is accepted at the lab, the results will be available in approximately 4 weeks.

The Blueprint Genetics CES Platform is a CE-marked in-vitro diagnostic medical device that uses short-read next-generation sequencing to analyze the individual’s DNA. Indeed, although short-read sequencing is highly accurate, it is not suitable for the testing of repeats. Repeats, or repetitive DNA, are sequences of DNA that are similar or identical to sequences elsewhere in the genome, which lead to ambiguities in alignment and assembly from a bioinformatic perspective, especially if the length of the repeat region is greater than the read length. This can produce misalignment and errors in results interpretation, which is why we have not included repeat testing in our portfolio.

Yes, we have included genes that are associated with X-linked, autosomal dominant and/or adult-onset conditions in the tests.

The Blueprint Genetics CES Platform is a CE-marked in-vitro diagnostic medical device that uses short-read next-generation sequencing to analyze the individual’s DNA. Although short-read sequencing is highly accurate, it is not suitable for the testing of repeats. Repeats, or repetitive DNA, are sequences of DNA that are similar or identical to sequences elsewhere in the genome, which lead to ambiguities in alignment and assembly from a bioinformatic perspective, especially if the length of the repeat region is greater than the read length. This can produce misalignment and errors in results interpretation. However, 6 of our screening tests include the analysis of the cytosine-guanine-guanine (CGG) repeat region in the 5’-untranslated region of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene using PCR amplification and fragment size analysis to determine CGG repeat length. Repeat expansion reporting includes findings consistent with intermediate CGG repeat length (45-54), premutation (55-200) and full mutation (>200 repeats) (PMID: 23765048). Indication of AGG interruptions is reported for female carriers of premutations but specific nature of the repeat (presence and number of AGG interruptions) will require confirmation using additional methods.