Nephrology
Nephrology Panels

Genetic testing for nephrology

Our panels include over 3,000 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

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.

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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.

Latest news and resources

Webinars

Choosing the Right Genetic Testing Strategy: Can One Size Fit All?

Aug 10, 2022

In this presentation, Christèle du Souich, MSc, CGC, CCGC, reviews different types of testing platforms and what to consider when choosing a genetic test for your patient. Through case examples, the step-by-step process and the related key challenges and potential solutions will be presented.

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Webinars

Patient Clinical Information: Things to Consider When Submitting a Patient Phenotype with Your Sample

Jun 30, 2022

In this educational webinar, Dr. Bryce Mendelsohn, Clinical Medical Geneticist, will discuss what in his experience is the most useful phenotypic information to send along with your sample. He will be joined by our Seattle lab director, Dr. Jennifer Schleit, who will review why, from the laboratory perspective, a detailed patient phenotype is essential to increase the chances of obtaining a diagnosis. Together they will further discuss this issue with the help of some clinical examples.

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Videos

Our Offering

Jun 15, 2022

We are passionate about changing peoples’ lives through development of groundbreaking solutions that take genetic diagnostics from niche to mainstream – to the benefit of patients with rare inherited diseases worldwide. In this video, find out why you should choose Blueprint Genetics.

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