The endocrine system consists of several glands responsible for producing hormones. These hormones are essential for proper development. The excess or deficiency of hormones can cause onset of diabetes, obesity or other endocrine diseases.
Many endocrine diseases are due to heritable genetic defects. Our tests help to establish the most appropriate treatment for each patient and they also allow to evaluate the risk of their offspring or other relatives to be affected by the same condition.
This risk assessment makes it possible to take preventive measures such as lifestyle changes, adapt treatments to improve the prognosis of the disease or helping in the family planning stage.
Some inherited conditions such as hyperinsulinemic hypoglycemia, neonatal diabetes, MODY diabetes, adult diabetes, family hypercholesterolemia or chronic pancreatitis can condition the correct development of those who suffer from them.
Among the different glands that may be affected, the thyroid, pancreas or adrenal glands stand out. Involvement of the latter in hereditary pathologies such as congenital adrenal hyperplasia leads to abnormal production of steroid hormones, such as cortisol or aldosterone, involved in the control of metabolism, maintenance of blood pressure or heart rate; and other hormones involved in sexual development.
Types of genetic tests in endocrinology
1. CARRIER SCREENING TESTS
Direct search for mutations associated with endocrine genetic diseases. These tests are intended for individuals who know that a direct family member has a mutation causing an endocrine disease and want to know if they are carriers of that disease.
2. ENDOCRINE GENE PANELS
A set of genes that may be involved in the development of a certain endocrinopathy are studied.
At CONGEN we are continually updating our products and offer new services once there is clinical evidence of their usefulness. Ask us about new advances and developments.
If you want more information about genetic studies in Endocrinology