MOLECULAR STUDY BROOKE-SPIEGLER SYNDROME (CYLD) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4093

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands. People with Brooke-Spiegler syndrome typically begin developing tumors in early adulthood. The tumors are most often found on the head and neck. They grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The tumors can be disfiguring and may contribute to depression or other psychological problems. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
Links:
OMIM Entry - # 605041 - BROOKE-SPIEGLER SYNDROME; BRSS
Orphanet- Brooke Spiegler syndrome
OMIM Entry - - 605018 - CYLD GENE; CYLD

   Find the record of the test by clicking here