Nephrology

We offer comprehensive genetic diagnostics for inherited kidney diseases. These disorders include some congenital single-organ diseases and a variety of multiorgan syndromes, such as the ciliopathies. Classical ciliopathies include polycystic kidney disease (PKD), retinal degeneration, laterality defects, chronic respiratory problems, situs inversus, hydrocephalus, and infertility.

Genetic testing for nephrology

Inherited renal diseases are estimated to cause 50% of pediatric chronic renal failure (CRF) and 20% of adult CRF. Many kidney disorders lead to end-stage renal disease (ESRD) – permanent failure of the kidneys that requires kidney transplant. A significant proportion of patients with nephrotic syndrome (NS) suffer from so-called steroidresistant NS. For these patients, prognosis is poor, as 30–40% develop ESRD requiring dialysis and transplantation.

What genetic diagnostics can offer patients with nephrological diseases

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.

An accurate genetic diagnosis is key for optimizing treatment and identifying other manifestations of the syndrome for which a patient should be screened. Establishing the underlying genetic defect and inheritance pattern also allows family member testing to identify at-risk relatives.

Additionally, for patients with NS, ineffective treatment with steroids and other immunosuppressive drugs can be avoided through genetic testing. Identification of causative mutations can also be used in prognostics, as post-transplant recurrence is generally high, but for patients with a genetic origin of the disease, recurrence is almost unheard of.

Find the right test for your patient

How to order

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.

Our clinical statement is industry leading.

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News

Full transparency sets a new standard for quality

Published on July 21, 2017

Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…

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Podcast

Transparency in genetic diagnostics

Published on June 15, 2017

There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.

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Resource

 Validation of clinical testing

[WHITE PAPER] Validation of clinical testing – Setting a new standard for clinical testing through fully transparent validation. Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests. Blueprint Genetics performs analytic…

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