The Blueprint Genetics Hyperparathyroidism Panel is a six gene test for genetic diagnostics of patients with clinical suspicion of hyperparathyroidism.Read more
EndocrinologyWe offer comprehensive genetic diagnostics for inherited diseases of the endocrine system and infertility. Our endocrinology panels focus on the endocrine glands and tissues that secrete hormones.
Genetic testing for endocrinology
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, as well as 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. Accurate molecular diagnosis is therefore 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.
A selection of our endocrinology panels
The Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel is a 39 gene test for genetic diagnostics of patients with clinical suspicion of androgen insensitivity syndrome, congenital adrenal hyperplasia, female pseudohermaphroditism, indeterminate sex and pseudohermaphroditism or male pseudohermaphroditism.Read more
Find the right test for your patient
Published on June 21, 2017
Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…Read more
Published on June 15, 2017
There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.
[WHITE PAPER] Validation of clinical testing – Setting a new standard for clinical testing through fully transparent validation. Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests. Blueprint Genetics performs analytic…Read more