Achromatopsia

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* ClinVar column is number of pathogenic variants reported in ClinVar
* HGMD column is the number of pathogenic variants reports in HGMD




Gene Methodology Detection
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Multiple samples for this test

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Blueprint Genetics laboratory

We are a genetic knowledge company that provides comprehensive genetic testing services and is based in San Francisco, Helsinki and Dubai. We provide the most comprehensive clinical-grade NGS offering on the market and distinguish ourselves with gapless sequencing and high-quality medical statements.

We want to provide an easy and fast access to actionable results without ever compromising quality. We take pride in sharing data and being transparent about our sequencing quality and pricing. We provide a very comprehensive test portfolio. We cover more than 2,000 genes with our NGS platform, provide more than 400 tests including targeted NGS panels and Del/Dup Analysis as well as Medical Exome, Whole Exome and CNV Analysis.

Our technologies include OS-Seq, a targeted sequencing technology developed at Stanford and published in Nature. This enables us to provide very high coverage sequencing at a low cost. Our validation report summarizes the strengths of our sequencing quality. In order to provide high quality and up-to-date clinical interpretation of the sequencing results we run a large genetic data platform that is powered by the IBM Watson, we call the platform CLINT.

We are here to bring genetic knowledge into mainstream healthcare, and we believe that cost efficiency without ever compromising quality is key in achieving that. Today we work with more than 150 hospital customers in 19 countries and every day we push to make actionable genetic knowledge easier to access for the medical community.

Browse all tests from this laboratory only

Address:
Blueprint Genetics
Biomedicum 2U
Tukholmankatu 8

Blueprint Genetics
Helsinki
00290
Finland
Contact:
Email: support@blueprintgenetics.com
Telephone: +358 40 2511 372


Accreditation:
CAP accreditation #9257331
ISO 15189 Accredited by FINAS No. T292
CLIA – Clinical Laboratory Improvement Amendments #99D2092375
State of California License #COS800637
State of Florida License #800028338
State of Maryland License #2409
State of Pennsylvania License #34897
State of Rhode Island License #LCO01004

Download sample clinical report

Laboratory procedures

Bioinformatics

The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The highest relevance in the reported variants is achieved through elimination of false positive findings based on variability data for thousands of publicly available human reference sequences and validation against our in-house curated mutation database as well as the most current and relevant human mutation databases. Reference databases currently used are the 1000 Genomes Project (http://www.1000genomes.org), the NHLBI GO Exome Sequencing Project (ESP; http://evs.gs.washington.edu/EVS), the Exome Aggregation Consortium (ExAC; http://exac.broadinstitute.org), ClinVar database of genotype-phenotype associations (http://www.ncbi.nlm.nih.gov/clinvar) and the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk). The consequence of variants in coding and splice regions are estimated using the following in silico variant prediction tools: SIFT (http://sift.jcvi.org), Polyphen (http://genetics.bwh.harvard.edu/pph2/), and Mutation Taster (http://www.mutationtaster.org).

Clinical interpretation

In addition to our cutting-edge patented sequencing technology and proprietary bioinformatics pipeline, we also provide the customers with the best-informed clinical report on the market. Clinical interpretation requires fundamental clinical and genetic understanding. At Blueprint Genetics our geneticists and clinicians, who together evaluate the results from the sequence analysis pipeline in the context of phenotype information provided in the requisition form, prepare the clinical statement. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals, even without training in genetics.

Variants reported in the statement are always classified using the Blueprint Genetics Variant Classification Scheme modified from the ACMG guidelines (Richards et al. 2015), which has been developed by evaluating existing literature, databases and with thousands of clinical cases analyzed in our laboratory. Variant classification forms the corner stone of clinical interpretation and following patient management decisions. Our statement also includes allele frequencies in reference populations and in silico predictions. We also provide PubMed IDs to the articles or submission numbers to public databases that have been used in the interpretation of the detected variants. In our conclusion, we summarize all the existing information and provide our rationale for the classification of the variant.

A final component of the analysis is the Sanger confirmation of the variants classified as likely pathogenic or pathogenic. This does not only bring confidence to the results obtained by our NGS solution but establishes the mutation specific test for family members. Sanger sequencing is also used occasionally with other variants reported in the statement. In the case of variant of uncertain significance (VUS) we do not recommend risk stratification based on the genetic finding. Furthermore, in the case VUS we do not recommend use of genetic information in patient management or genetic counseling. For some cases Blueprint Genetics offers a special free of charge service to investigate the role of identified VUS.

We constantly follow genetic literature adapting new relevant information and findings to our diagnostics. Relevant novel discoveries can be rapidly translated and adopted into our diagnostics without delay. These processes ensure that our diagnostic panels and clinical statements remain the most up-to-date on the market.