Nephrology

Genetic testing for nephrology

Our panels include over 3,900 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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Latest news and resources

Webinars

Understanding Skeletal Dysplasias—Recent Advances in Genetics

Nov 24, 2020

In this educational webinar, Clinical Liaison  Alicia Scocchia, MS, CGC, will review molecular causes of skeletal dysplasias and discuss genetic testing considerations. We will also share our experience at Blueprint Genetics with diagnostic panel testing for individuals with these conditions. Case examples will be explored highlighting complex clinical presentations and the involvement of copy number variants in diagnostic findings.

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New buccal swabs for easier sample collection available from November 23, 2020

Nov 09, 2020

New Ora-Collect OCR-100/OCD-100 buccal swabs will be available for healthcare providers to order through our website or online portal, Nucleus. This new specimen collection kit addresses the need for more accessible sample collection, especially for pediatric patients or when collecting sufficient sample volume with a traditional saliva kit is otherwise challenging.

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