Cohen Syndrome
Analysis ID 91
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Cohen Syndrome
OMIM #216550
Clinical information Cohen Syndrome is a rare genetic autosomal recessive disorder. Characteristic features involve dysmorphic face, microcephaly, mental retardation, excessive joint laxity, ocular anomalies, hypotonia in infancy, and obesity during early childhood.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes COH1
Analysis description Sequencing analysis of exon 23 of COH1 gene (common mutation)
Analysis indication Symptoms of Cohen syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders