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Blueprint Genetics | Global Genetic Tests and Genetic Diagnostics

We offer complete genetic testing and genetic diagnostics. Learn more about our winning clinical-grade NGS offering!

http://www.blueprintgenetics.com/

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Blueprint Genetics | Global Genetic Tests and Genetic Diagnostics | blueprintgenetics.com Reviews

https://blueprintgenetics.com

We offer complete genetic testing and genetic diagnostics. Learn more about our winning clinical-grade NGS offering!

SUBDOMAINS

cardiology.blueprintgenetics.com cardiology.blueprintgenetics.com

Front page - Blueprint Genetics - Cardiology

Blueprint Genetics - Cardiology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Blueprint Genetics wants to change the field of cardiogenetics by providing our customers the most rapid and comprehensive diagnostics and clinical interpretation available. Blueprint Genetics diagnostic panels cover majority of genes associated with cardiomyopathies, arrhythmias and vascular diseases. Find a test for your patient. 22 diagnostic tests, covering 242 genes. Associated with cardiological conditions. Our team o...

hematology.blueprintgenetics.com hematology.blueprintgenetics.com

Front page - Blueprint Genetics - Hematology

Blueprint Genetics - Hematology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Accurate genetic diagnosis is necessary to confirm the diagnosis of certain hematological malignancies and to find the optimal treatment for affected patients. Establishing the underlying genetic defect and inheritance pattern further allows family member testing to identify at-risk relatives. Find a test for your patient. 16 diagnostic tests, covering 176 genes. Associated with hematological conditions. Depending on the un...

ophthalmology.blueprintgenetics.com ophthalmology.blueprintgenetics.com

Front page - Blueprint Genetics - Ophthalmology

Blueprint Genetics - Ophthalmology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Retinal dystrophies are characterized by remarkable genetic heterogeneity and significant phenotypic overlap between related conditions. Molecular genetic diagnostics is the most efficient way to subtype these diseases, and provides the necessary information to make confident individualized treatment and management decisions. Find the test for your patient. 22 diagnostic tests, covering 302 genes. Ordering a test from us...

cancer.blueprintgenetics.com cancer.blueprintgenetics.com

Front page - Blueprint Genetics - Hereditary Cancer

Blueprint Genetics - Hereditary Cancer. Ear Nose and Throat. Whole Genome Del/Dup (CNV). We offer comprehensive genetic diagnostics for a number of disorders associated with hereditary cancer susceptibility. These cancer panels cover genes associated with cancer types originating from the gastrointestinal tract, the endocrine and neuroendocrine systems, different organs such as the lungs, kidneys, liver, pancreas, skin, and eyes, gathering the known genetic defects presenting early in childhood. Our team...

dermatology.blueprintgenetics.com dermatology.blueprintgenetics.com

Dermatological diseases - Genetic Diagnostics - Blueprint Genetics

Blueprint Genetics - Dermatology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Genetic diagnostics is the most efficient way to subtype hereditary dermatological diseases, providing the necessary information to make confident individualized treatment and management decisions. Moreover, detection of the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Find a test for your patient. 14 diagnostic tests, covering 156 genes.

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Front page - Blueprint Genetics - Ear Nose & Throat

Blueprint Genetics - Ear Nose and Throat. Ear Nose and Throat. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Ear Nose and Throat. We offer comprehensive genetic diagnostics for all types of hereditary hearing loss and deafness. These diseases include nonsyndromic hearing loss, as well as syndromes in which hearing loss and deafness present along with defects affecting other parts of the body. Find the right test for your patient. 9 diagnostic tests, covering 161 genes. Non-Syndromic Hearing Loss Panel.

gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

Front page - Blueprint Genetics - Gastroenterology

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). We offer comprehensive genetic diagnostics for hereditary gastrointestinal diseases, including the gastrointestinal tract from the esophagus, stomach, small and large intestines to the rectum; as well as the accessory organs of digestion: the liver, gallbladder, and pancreas. Find a test for your patient. 7 diagnostic tests, covering 82 genes. Associated with gastroenterological conditions. Genetic diagnosis is also c...

malformations.blueprintgenetics.com malformations.blueprintgenetics.com

Front page - Blueprint Genetics - Malformations

Blueprint Genetics - Malformations. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Genetic diagnostics is the most efficient way to subtype malformations, providing the necessary information to make confident individualized treatment and management decisions. Moreover, identifying the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Find a test for your patient. 32 diagnostic tests, covering 442 genes. Inherited skeletal ...

metabolic-disorders.blueprintgenetics.com metabolic-disorders.blueprintgenetics.com

Front page - Blueprint Genetics - Metabolic Disorders

Blueprint Genetics - Metabolic Disorders. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Genetic diagnostics is the most efficient way to subtype metabolic disorders, providing the necessary information to make confident individualized treatment and management decisions. For example, in coenzyme Q10 deficiency, a correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Find the test for your patient. 22 diagnostic tests, covering 354 genes. What genetic dia...

nephrology.blueprintgenetics.com nephrology.blueprintgenetics.com

Front page - Blueprint Genetics - Nephrology including ciliopathies

Blueprint Genetics - Nephrology including ciliopathies. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Genetic causes of kidney diseases include a number of single-gene disorders, a variety of chromosomal abnormalities, and many multifactorial disorders. A genetic cause may be suspected from known family history or the simultaneous occurrence of other medical problems, but in many cases disease presentation is unexpected. Find a test for your patient. 23 diagnostic tests, covering 222 genes. Ordering a...

INTERNAL PAGES

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1

Exceptional findings with OS-Seq in an arrhythmia patient - Blueprint Genetics

https://blueprintgenetics.com/exceptional-findings-with-os-seq-in-an-arrhythmia-patient

Whole Genome Del/Dup (CNV). Exceptional findings with OS-Seq in an arrhythmia patient. Published on April 9, 2015. To read more and download the report click here. We are hiring – Office Assistant/Helsinki Office. Published on August 8, 2016. Read more about the position and apply here! A new innovative CNV analysis for genetic diagnostics. Published on May 12, 2016. Crafted by booncon PIXELS.

2

DNA Sequencing I Methods & Services I Blueprint Genetics

https://blueprintgenetics.com/service-description

Whole Genome Del/Dup (CNV). Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. Targeted Del/Dup (CNV) Analysis. Whole Genome Del/Dup (CNV). Our high-quality Whole Exome Sequencing is an efficient and optimal genetic diagnostic technique for clinicians treating patients with complex phenotypes.

3

Blueprint Genetics management team

https://blueprintgenetics.com/about-us/meet-the-team

Whole Genome Del/Dup (CNV). Tommi has been running Blueprint Genetics since the beginning and is responsible for sales management, business development, finance and administration. He visits Bay Area frequently and attends life science and diagnostics events regularly. Tommi holds a M.Sc. from the Helsinki University of Technology where he studied business strategy and applied mathematics. Laboratory Director, Chief Medical Officer, MD, Ph.D. President, Chief Medical Officer, MD, Ph.D. Erik has over 20 y...

4

News - Blueprint Genetics

https://blueprintgenetics.com/blog

Whole Genome Del/Dup (CNV). Find the latest news regarding genetic testing and diagnostics from Blueprint Genetics. A new innovative CNV analysis for genetic diagnostics. Published on May 12, 2016. Blueprint Genetics introduces one of the most comprehensive NGS offerings on the market. Published on March 16, 2016. High diagnostic accuracy provided by Blueprint Genetics’ technologies is essential for clinical diagnostics. Published on March 8, 2016. Sequencing is still one of the major steps where genetic...

5

Genetic diagnostics - Test menu - Blueprint Genetics

https://blueprintgenetics.com/tests/kidney

Whole Genome Del/Dup (CNV). Blueprint Genetics is changing diagnostics by providing accessible and actionable genetic diagnostics in all medical specialties. We want to support healthcare professionals around the world in providing the best care for patients and families with rare inherited diseases. We do that by delivering answers using fast, affordable and comprehensive genetic diagnostics. Whole Genome Del/Dup (CNV). 3-M Syndrome / Primordial Dwarfism Panel. Amyotrophic Lateral Sclerosis Panel. Compr...

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gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

Sequence Analysis I Genetic diagnostics I Blueprint Genetics

http://gastroenterology.blueprintgenetics.com/methods-and-services/sequence-analysis

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). With targeted sequencing it is possible to identify all mutations that have been previously linked to specific genetic disorders as well as novel variants in the disease-associated genes. Plus Analysis – a combination of Sequence Analysis and Del/Dup (CNV) Analysis. Our Targeted Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq and is used to detect SNPs and small INDELs in the patient’s DN...

gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

Targeted Del/Dup (CNV) I CNV Analysis I Blueprint Genetics

http://gastroenterology.blueprintgenetics.com/methods-and-services/deldup-analysis

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). When to choose Del/Dup (CNV) Analysis:. The patient is suspected to have a genetic disorder mainly caused by deletions and duplications. Sequence Analysis Panel is negative. Sequence Analysis Panel identifies only a single variant for an autosomal recessive disorder. For male patients with X-linked disorders where no mutation has been identified by Sequence Analysis Panel. Whole Genome Del/Dup (CNV).

gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

Family member testing - Sanger sequencing - Blueprint Genetics

http://gastroenterology.blueprintgenetics.com/methods-and-services/family-member-testing

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Blueprint Genetics provides efficient testing to family members of the probands (index patients) that have previously been or are currently analyzed at Blueprint Genetics. We provide family members with mutation-specific Sanger tests (1-3 mutations). Click to share on Facebook (Opens in new window). Click to share on LinkedIn (Opens in new window). Click to share on Twitter (Opens in new window). Order a specimen kit.

gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

Genetic testing for chromosomal abnormalities I DiGeorge Syndrome

http://gastroenterology.blueprintgenetics.com/methods-and-services/whole-genome-cnv

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Whole Genome Del/Dup (CNV). Blueprint’s Whole Genome Del/Dup test provides essentially better resolutions than array-based techniques and allows a possibility of mapping the exact CNV location. Results in just 10 days. Deletion of 22q11.2 and 7% have inherited the 22q11.2 deletion from a parent. AZF microdeletion belongs to Y chromosome derived infertilities where the deletions are usually. Located within the 15q11&#4...

gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

Genetic testing for Pancreatitis - Gastroenterology

http://gastroenterology.blueprintgenetics.com/panels/pancreatitis-panel

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 21 days.

gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

How to order - Blueprint Genetics - Gastroenterology

http://gastroenterology.blueprintgenetics.com/how-to-order

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus or send us a requisition form by mail. Choose the preferred way to order:. Our online ordering and reporting system. Fill in both forms and send them back to us. Panels and Whole Genome Del/Dup (CNV). Exome testing is not currently available in the US. Order a specimen kit. Heard Island and McDonald Islands. What the tes...

gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

Genetic test I Express Service I Blueprint Genetics

http://gastroenterology.blueprintgenetics.com/methods-and-services/express-service

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). We offer an option for express service for our cardiology NGS panels. For clinical cases where genetic information is needed faster than within our normal turnaround time of 21 days. For ordering Express service for panels in other specialties, contact our customer support. Additional costs are included in these high priority samples. Whole Genome Del/Dup (CNV). Crafted by booncon PIXELS.

gastroenterology.blueprintgenetics.com gastroenterology.blueprintgenetics.com

Genetic testing - Support - Blueprint Genetics

http://gastroenterology.blueprintgenetics.com/support

Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Browse by topic and find information to frequently asked questions. If you have any further questions, don’t hesitate to contact us. Certifications and Important Numbers. Is a required field. Organization or health institution*. Bonaire, Sint Eustatius and Saba. Bolivia, Plurinational State of. Congo, the Democratic Republic of the. Micronesia, Federated States of. Heard Island and McDonald Islands. Korea, Republic of.

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Cloud-based LIMS - GenoLogics, An Illumina Company

http://www.genologics.com/clarity-lims-cloud

Sample Identification and Data Integrity. Reagent and Lot Tracking. System Security and Patient Privacy. BaseSpace Clarity LIMS X. Implementation and Customer Success. Response Times and Issue Escalation. Developer Resources and API. Certified Developer Program and Consultants. Hotel & Venue. Giving Core Labs Top Billing. BaseSpace Suite Informatics Summit. BaseSpace Clarity LIMS Reporting Module. Covering the Bases: How BaseSpace Clarity LIMS Integrates with BaseSpace Sequence Hub. Labs are under intens...

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Genetic testing for chromosomal abnormalities I DiGeorge Syndrome

http://metabolic-disorders.blueprintgenetics.com/methods-and-services/whole-genome-cnv

Blueprint Genetics - Metabolic Disorders. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Whole Genome Del/Dup (CNV). Whole Genome Del/Dup (CNV). Blueprint’s Whole Genome Del/Dup test provides essentially better resolutions than array-based techniques and allows a possibility of mapping the exact CNV location. Results in just 10 days. And therefore not present in the father of the proband. Angelman syndrome (AS) is caused by disruption of maternally imprinted. Located within the 15q11.2-q13 region&#...

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