Coffin-Lowry syndrome (CLS)
Analysis ID 195
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Coffin-Lowry syndrome (CLS)
OMIM 303600
Clinical information Coffin-Lowry syndrome is a rare X-linked form of syndromic mental retardation, which is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement, and cognitive impairment in the affected males and less frequently in the female carriers.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes RSK2
Analysis description Sequencing of the entire coding region of the RSK2 gene
Analysis indication Coffin – Lowry syndrome
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for Molecular Genetics