Noonan Syndrome
Analysis ID 60
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Noonan Syndrome
OMIM #163950
Clinical information Noonan Syndrome - autosomal dominant dysmorphic genetic syndrome characterized by short stature, heart defect, characteristic dysmorphic facies, hypoacusis, hematologic abnormalities (involving platelet function), and in some cases mental retardation.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes PTPN11; protein-tyrosine phosphatases
Analysis description Sequencing analysis of exons 3, 8, 9, 13 of the PTPN11 gene
Analysis indication Symptoms of Noonan Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics