Noonan Syndrome
Noonan Syndrome is an autosomal dominantly inherited disease characterised by short stature, congenital heart defect and delayed mental development of varying degree. Patients with Noonan Syndrome also have a characteristic appearance: short neck, cervical skin fold, low set ears, hypertelorism. Additionally lymphatic system dysplasia may occur, which is the basis of cystic hygroma and occipital fold enlargement in the fetus.
The incidence of Noonan Syndrome is about 1:1000-2500. Noonan Syndrome is genetically heterogeneous. In 50% of patients mutations occur in the PTPN11 gene. 10% of cases are associated with mutations in the SOS1 gene, 3% in the RAF1 gene and 1% in the KRAS gene.
The microarray-based test enables simultaneous detection of 59 known disease-related mutations in the PTPN11 gene, 24 mutations in the SOS1 gene, 10 mutations in the KRAS gene and 14 mutations in the RAF1 gene. In addition one more disease-related mutation is analysed in the MEK1 gene. The analysis detection level of Noonan Syndrome is about 70%.
The test is available with diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
Genetic testing for Noonan Syndrome is recommended for diagnosis confirmation, testing of family members, genetic counseling and prenatal molecular diagnosis (if necessary).
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