ENDOCRINOLOGY.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

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&#4...

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.

metabolic-disorders.blueprintgenetics.com

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&#...

metabolic-disorders.blueprintgenetics.com

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 ...

metabolic-disorders.blueprintgenetics.com

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.