metabolic-disorders.blueprintgenetics.com
Front page - Blueprint Genetics - Metabolic DisordersGenetic diagnostics for Metabolic disorders
http://metabolic-disorders.blueprintgenetics.com/
Genetic diagnostics for Metabolic disorders
http://metabolic-disorders.blueprintgenetics.com/
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Front page - Blueprint Genetics - Metabolic Disorders | metabolic-disorders.blueprintgenetics.com Reviews
https://metabolic-disorders.blueprintgenetics.com
Genetic diagnostics for Metabolic disorders
metabolic-disorders.blueprintgenetics.com
Genetic testing for inborn error of metabolism
http://metabolic-disorders.blueprintgenetics.com/panels/comprehensive-metabolism-panel
Blueprint Genetics - Metabolic Disorders. 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. Results in 3-4 weeks. We do not offer a maternal cell contamination (MCC) test at the moment. We offer prenatal testing only for cases where the ...Click...
DNA Sequencing I Methods & Services I Blueprint Genetics
http://metabolic-disorders.blueprintgenetics.com/methods-and-services
Blueprint Genetics - Metabolic Disorders. 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. Whole Genome Del/Dup (CNV). We provide efficient testing of the known disease-causing mutation to family members of the ...
Pricing - Blueprint Genetics - Metabolic Disorders
http://metabolic-disorders.blueprintgenetics.com/pricing
Blueprint Genetics - Metabolic Disorders. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Our pricing scheme is motivated by three principles: cost efficiency, convenience, and patient friendliness. We provide separate prices for NGS analysis, Del/Dup tests, whole-genome Del/Dup (CNV) analysis and family member testing. We also have a pricing scheme for Plus-tests that combine both NGS sequence analysis panels and corresponding high-quality Del/Dup tests. Our pricing of tests and extra services.
Genetic testing - Support - Blueprint Genetics
http://metabolic-disorders.blueprintgenetics.com/support
Blueprint Genetics - Metabolic Disorders. 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.
Genetic diagnostics - Test menu - Blueprint Genetics
http://metabolic-disorders.blueprintgenetics.com/tests
Blueprint Genetics - Metabolic Disorders. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Test menu: Metabolic Disorders. 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 Exome Seque...
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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
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
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
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...
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
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.
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
Clinical Genetics Support I Genetic diagnostics
http://gastroenterology.blueprintgenetics.com/methods-and-services/clinical-genetics-support
Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Blueprint Genetics offers Clinical Genetics Support for situations requiring specialized expertise in genetic diagnostics. Questions on challenging biological samples and shipment strategies. Discussions on selecting an optimal diagnostic tool for your patient. Questions concerning the clinical statement and discussions on variant classification. Assistance in genetic counseling of your patient and the family. We prov...
gastroenterology.blueprintgenetics.com
DNA Sequencing I Methods & Services I Blueprint Genetics
http://gastroenterology.blueprintgenetics.com/methods-and-services
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. Whole Genome Del/Dup (CNV). We provide efficient testing of the known disease-causing mutation to family members of the pro...
gastroenterology.blueprintgenetics.com
Plus Analysis - Blueprint Genetics - Gastroenterology
http://gastroenterology.blueprintgenetics.com/methods-and-services/plus-analysis
Blueprint Genetics - Gastroenterology. Ear Nose and Throat. Whole Genome Del/Dup (CNV). Importantly, multiple mutations in the same gene may cause more severe disease for the affected person and therefore, determination of all the potential genetic causes for the phenotype is essential to fully understand the contribution of genetics to the patient’s disease. Plus Analysis combines Sequence Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions.
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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...
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