Androgen Insensitivity Syndrome
Combined Pituitary Hormone Deficiency
Congenital Adrenal Hyperplasia
Familial Hypocalciuric Hypercalcemia
Hypothyroidism and Thyroid Hormone Resistance
Maturity Onset Diabetes of the Young (MODY)
Multiple endocrine neoplasia syndrome NEW
Whole Exome Sequencing
Asper Endocrinology encompasses tests for diagnostics of hereditary endocrine disorders.
As genetic factors have significant role in pathogenesis of endocrine diseases, the molecular diagnostics has become the daily practice of endocrinology.
Genetic testing is utilized not only for diagnostics of monogenic diseases, since next generation sequencing has given a powerful tool in the diagnosis of complex disorders. In addition to detecting underlying causes of endocrine disorders, the genetic testing may also facilitate optimizing treatment and identifying at risk family members.