Androgen Insensitivity Syndrome
Combined Pituitary Hormone Deficiency
Congenital Adrenal Hyperplasia NEW!!
Familial Hypocalciuric Hypercalcemia
Hypothyroidism and Thyroid Hormone Resistance
Maturity Onset Diabetes of the Young (MODY)
Whole Exon Sequencing
Whole Genom Sequencing
Genetic Passport Endocrinology encompasses tests for diagnostics of hereditary endocrine disorders.
As genetic factors have a significant role in the pathogenesis of endocrine diseases, 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, genetic testing may also facilitate optimizing treatment and identifying at-risk family members.