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 |