"The systems we are creating are built for simplicity and flexibility, not to be fancy and complex". Eemi Haukkala works as a cloud engineer at Blueprint Genetics. Read his story on what he enjoys about working in the field of clinical genetic testing.Read more
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.
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
Coding for genetics applications means problem-solving, progress-tracking, and especially quality assurance, through various levels of testing during each stage of the development process.Read more
"Genetics, the science, the technology and the lab environment change all the time; one has to be open-minded and eager to learn to keep up with it,” Quality Assurance Associate Jenna Flinck says.Read more