Durante este seminario web educativo, la Dra. Raquel Pérez Carro, ofrecerá una visión general del proceso de análisis e interpretación del exoma. Desde el análisis de los datos hasta la interpretación de las variantes, se describirá cómo descifrar los datos genéticos del paciente para proporcionar información clínicamente relevante.Read more
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.
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.
Latest news and resources
The My Retina Tracker Genetic Testing Program Continues to Expand with Spark Therapeutics Joining as New Collaborator
Spark Therapeutics joins as a new collaborator to the My Retina Tracker® Genetic Testing Program to broaden access for individuals living with an inherited retinal degeneration (IRD).Read more