# Blueprint Genetics: Genetic diagnostics for inherited disorders

> We offer complete genetic testing and genetic diagnostics to medical professionals worldwide\. Learn more about our winning clinical\-grade NGS offering\!

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## Pages
- [Home](https://www.blueprintgenetics.com/)
- [General Terms](https://www.blueprintgenetics.com/general-terms/)
- [Express Service](https://www.blueprintgenetics.com/express-service/)
- [Express Service Refund Policy](https://www.blueprintgenetics.com/express-service-refund-policy/)
- [Forms](https://www.blueprintgenetics.com/forms/)

## Tests
- [Osteopetrosis and Dense Bone Dysplasia Panel](https://www.blueprintgenetics.com/tests/panels/malformations/osteopetrosis-and-dense-bone-dysplasia-panel/)
- [Core Proactive Screen](https://www.blueprintgenetics.com/tests/screening/screening-tests/core-proactive-screen/)
- [Core Cardiology Screen](https://www.blueprintgenetics.com/tests/screening/screening-tests/core-cardiology-screen/)
- [Core Cancer Screen](https://www.blueprintgenetics.com/tests/screening/screening-tests/core-cancer-screen/)
- [Comprehensive Proactive Screen](https://www.blueprintgenetics.com/tests/screening/screening-tests/comprehensive-proactive-screen/)

## Events
- [The XXIX SIGU National Congress](https://www.blueprintgenetics.com/events/the-xxix-sigu-national-congress/): Blueprint Genetics will be attending the XXIX SIGU National Congress in Rimini, Italy\. The SIGU congress will be a unique gathering of healthcare professionals working in genetics with diverse expertise, all sharing a common interest in education and advocating for best practices in clinical and laboratory genetics\.
- [Blueprint Genetics \- The 64th Annual Meeting of the Austrian Society for Pediatric and Adolescent Health](https://www.blueprintgenetics.com/events/the-64th-annual-meeting-of-the-austrian-society-for-pediatric-and-adolescent-health/)
- [The 102 Congreso SEO](https://www.blueprintgenetics.com/events/102-congreso-seo/)
- [The 7th Polish Congress of Genetics](https://www.blueprintgenetics.com/events/the-7th-polish-congress-of-genetics/)
- [The 7th National Congress on Medical Genetics](https://www.blueprintgenetics.com/events/the-7th-national-congress-on-medical-genetics/)

## News
- [Juhana Rauramo joins Blueprint Genetics as the new Vice President and General Manager](https://www.blueprintgenetics.com/news/juhana-rauramo-joins-blueprint-genetics-as-the-new-vice-president-and-general-manager/): Juhana Rauramo, a 20\-year veteran of the diagnostics industry in Finland, has joined Quest Diagnostics as vice president and general manager for the company’s Helsinki\-based Blueprint Genetics business, reporting to Mark Gardner, SVP, Oncology \& Genomics\. Based in Helsinki, Finland, Juhana will lead Blueprint Genetics’ business strategy for EMEA and rest\-of\-world markets\. Mr Rauramo will also serve as managing director for the company and work closely with cross\-functional partners and US colleagues as it aligns with Blueprint’s genomics products, service, and technology strategies\.  
- [Blueprint Genetic's gene list for diagnostic panel customization has been expanded by over 14,000 new genes](https://www.blueprintgenetics.com/news/blueprint-genetics-gene-list-for-diagnostic-panel-customization-has-been-expanded-by-over-14000-new-genes/)
- [Sequencing services for Whole Genome and Whole Exome research use](https://www.blueprintgenetics.com/news/sequencing-services-for-whole-genome-and-whole-exome-research-use/)
- [Blueprint Genetics expands capabilities in the detection and confirmation of difficult\-to\-sequence regions](https://www.blueprintgenetics.com/news/blueprint-genetics-expands-capabilities-in-the-detection-and-confirmation-of-difficult-to-sequence-regions/)
- [Our service hours during the holidays 2024\-2025](https://www.blueprintgenetics.com/news/our-service-hours-during-the-holidays-2024-2025/)

## Resources
- [Unlocking the diagnostic potential of whole exome sequencing: The role of high\-quality interpretation](https://www.blueprintgenetics.com/resources/unlocking-the-diagnostic-potential-of-whole-exome-sequencing-the-role-of-high-quality-interpretation/): In this webinar, Dr\. Kirsty Wells examines the core components of high\-quality WES interpretation: intelligent variant prioritization using a genotype\-first approach, continuously updated annotation of gene–disease associations, and the application of deep specialist expertise in variant interpretation\.
- [Review of mtDNA analysis in over 6,600 patients with rare disease](https://www.blueprintgenetics.com/resources/review-of-mtdna-analysis-in-over-6600-patients-with-rare-disease/)
- [MtDNA testing boosts retinal disease molecular diagnosis](https://www.blueprintgenetics.com/resources/mtdna-testing-boosts-retinal-disease-molecular-diagnosis/)
- [Genotype\-first exome analysis boosts yield of positive results](https://www.blueprintgenetics.com/resources/genotype-first-exome-analysis-boosts-yield-of-positive-results/)
- [Boosting diagnosis in primary immunodeficiency](https://www.blueprintgenetics.com/resources/boosting-diagnosis-in-primary-immunodeficiency/)

## Test Types
- [Single Gene Tests](https://www.blueprintgenetics.com/test-type/single-gene-tests/)
- [Panels](https://www.blueprintgenetics.com/test-type/panels/)
- [Screening Test](https://www.blueprintgenetics.com/test-type/screening/)
- [Whole Exome Sequencing](https://www.blueprintgenetics.com/test-type/whole-exome-sequencing/)
- [Variant Specific Testing](https://www.blueprintgenetics.com/test-type/variant-specific-testing/)

## Specialties
- [Neurology](https://www.blueprintgenetics.com/tests/panels/neurology/)
- [Cardiology](https://www.blueprintgenetics.com/tests/panels/cardiology/)
- [Malformations](https://www.blueprintgenetics.com/tests/panels/malformations/)
- [Ophthalmology](https://www.blueprintgenetics.com/tests/panels/ophthalmology/)
- [Metabolic Disorders](https://www.blueprintgenetics.com/tests/panels/metabolic-disorders/)

## Resource Types
- [Webinars](https://www.blueprintgenetics.com/resource-type/webinars/)
- [Posters](https://www.blueprintgenetics.com/resource-type/posters/)
- [Insights](https://www.blueprintgenetics.com/resource-type/insights/)
- [Publications](https://www.blueprintgenetics.com/resource-type/publications/)
- [Videos](https://www.blueprintgenetics.com/resource-type/videos/)

## FAQ Categories
- [Providers](https://www.blueprintgenetics.com/faqs/)
- [Patients](https://www.blueprintgenetics.com/patients/)
- [Whole Exome Sequencing](https://www.blueprintgenetics.com/faqs/?group=whole-exome-sequencing)
- [Prenatal testing](https://www.blueprintgenetics.com/faqs/?group=prenatal)
- [Raw Data](https://www.blueprintgenetics.com/faqs/?group=raw-data)

## Optional
- [Sitemap index](https://www.blueprintgenetics.com/sitemap_index.xml)