Noonan Syndrome NGS panel

Genes
(full
coding region):
BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1

Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Parental testing in case of a causative mutation has been identified in an affected  individual
  3. Genetic counseling
  4. Prenatal diagnosis

Noonan syndrome is an autosomal dominantly inherited disease characterized 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.