MOLECULAR STUDY PROTEUS SYNDROME (Glu17Lys, GEN AKT1), SEQUENCING, BIOLOGICAL SAMPLE

New Test in CIC Catalog

Test Code: 4323

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	27 days
Information:
At least one mutation in the AKT1 gene has been found to cause Proteus syndrome, a rare condition characterized by overgrowth of the bones, skin, and other tissues. This mutation changes a single protein building block (amino acid) in AKT1 kinase. Specifically, it replaces the amino acid glutamic acid with the amino acid lysine at protein position 17 (written as Glu17Lys or E17K). The mutation is not inherited from a parent; in people with Proteus syndrome, the mutation arises randomly in one cell during the early stages of development before birth.
Links:
OMIM Entry - # 176920 - PROTEUS SYNDROME
OMIM Entry - - 164730 - V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1

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