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Endocrinology

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.

 

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Genetic diagnostics for endocrinological diseases

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).

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.

Our diagnostic process

From sample to clinical interpretation

  1. Ordering and sample preparation

    After receiving a patient’s medical history and sample we start the sample preparations in our CLIA certified laboratory.

  2. Sequencing

    We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.

  3. Data analysis and interpretation

    We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.

  4. Clinical statement

    Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.

  1. Sample
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  2. Sequencing
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  3. Analysis
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  4. Report
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