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.
The Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA, offers an open access, no-cost genetic testing program called the My Retina Tracker Program®. This program is for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). In this webinar-workshop, we will review the program features and the online ordering process.
El equipo de Blueprint Genetics no está ajeno al reto de resolver casos complejos. Durante este seminario web, la Dra. Rocío Sánchez Alcudia, genetista en Blueprint Genetics, describirá, a través de ejemplos de casos pediátricos, algunos de los desafíos más recientes a los que se ha enfrentado nuestro equipo para llegar a un diagnóstico molecular.
The Blueprint Genetics team is no stranger to challenging cases. In this webinar, Senior Geneticist, Dr Kirsty Wells and Clinical Liaison Julie Hathaway, will describe, through pediatric case examples, some of the team’s most recent efforts at arriving at a molecular diagnosis. They demonstrate how teamwork, combined with innovative technology, bioinformatics and skilled interpretation, can solve even the most difficult of cases.