McCune-Albright syndrome
Analysis ID 243
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness McCune-Albright syndrome
OMIM #174800
Clinical information Gain-of-function activating mutations of GNAS1 were shown in patients with McCune-Albright syndrome and are present in the mosaic state. They result from a postzygotic somatic mutation appearing early in the development which yields a monoclonal population of mutated cells within variously affected tissues. The non-mosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classical triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrine anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample; tissue specimen (bone, cartilage)
Analyzed genes GNAS
Analysis description Analysis consists of sequencing of the coding region of the GNAS gene.
Analysis indication Symptoms of McCune-Albright syndrome
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders