Endocrinology

Genetic testing for endocrinology

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.

The functions of the endocrine glands and tissues can be broadly grouped into several categories: reproduction and sexual differentiation, development and growth, maintenance of the internal environment, and metabolism and nutrient supply regulation. A single hormone may affect more than one of these functions, while each function may be controlled by several hormones.

The clinical utility of NGS-based molecular testing for endocrine disorders is very high. Additionally, sexual differentiation gene panel analysis has been found to be cost-effective for public health systems (UK Genetic testing network, UKGTN evaluation, 2015).

What genetic diagnostics can offer patients with endocrinological diseases

One example of the utility of genetic testing for endocrinology is for thyroid hormone imbalance. Thyroid hormones are essential for development and for many aspects of homeostasis and metabolism. Another example is glucocorticoids, such as cortisol, which are important in both growth and nutrient supply, and are also modulators of immune function.

Many endocrine disorders may present as part of a syndrome with multiple manifestations. Therefore, accurate molecular diagnosis is important for optimizing treatment and in identifying other manifestations of the syndrome for which the patient should be screened. Establishing the underlying genetic defect and inheritance pattern further allows family member testing to identify at-risk relatives and informs the discussion of reproductive options.

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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

In Focus: Complex Genetic Regions in Clinical Diagnostics

Jan 14, 2021

In this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions.

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Videos

Video: The Rapidly Evolving Field of Retinal Genetics

Jan 13, 2021

We spoke with Dr Reddy about how she utilizes genetic testing when caring for patients with an ophthalmologic disorder and what she looks for in a test. She provides insight into the positive effects of ordering genetic testing for her patients and discusses the benefits of the My Retina Tracker Program, an open access genetic testing program for patients in the US with inherited retinal disease. Finally, she shares her thoughts on what the future of ophthalmology will look like and the role that genetic testing plays.

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