MOLECULAR STUDY COHEN SYNDROME (COH1) MLPA, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4117

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Plazo de Entrega:	25 days
Information:
Cohen syndrome is mainly characterized by obesity, hypotonia, mental retardation, characteristic craniofacial dysmorphism, and abnormal hands and feet. This syndrome has an autosomal recessive, with considerable variability of expression. The wide variety of events observed raises the possibility that not all cases of Cohen syndrome present a single process. Has been suggested that there are 2 types of Cohen syndrome, one with neutropenia and one without neutropenia. Obesity progresses over time with orthopedic disorders and oral problems, however, the patient's life expectancy is not affected in any significant way. Recently, characterization of a novel gene, COH1 (locus 8q22-q23) have found that it has mutated in patients with Cohen syndrome.

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