CNVs are becoming increasingly recognized as an important cause of many genetic diseases.Read more
Genetic testing for endocrinology
Our panels include over 2600 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.
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
Prevalence and characteristics of RPGR ORF15 variants in patients with inherited retinal dystrophies
Pathogenic variants in RPGR account for 80% of cases with X-linked retinitis pigmentosa (XLRP). The C-terminal 567-aa exon ORF15 is a mutational hotspot for RPGR-associated retinitis pigmentosa. However, it generally performs poorly in standard sequencing-based assays due to a highly repetitive glutamic acid/glycine-rich sequence.Read more
Identifying, or confirming, a genetic diagnosis can help guide medical management, improve patient outcomes and enable the identification of at-risk family members who may benefit from surveillance. During this webinar, Dr. Friedhelm Hildebrandt will review the most recent advances in genetic testing and diagnosing inherited kidney disease.Read more