MOLECULAR STUDY SYNDROME OF NOONAN (RAF1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4019

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	34 days
Information:
Noonan syndrome (NS) is characterized by short stature; congenital heart defect; broad or webbed neck; unusual chest shape, inferior pectus excavatum, and apparently low-set nipples; developmental delay of variable degree; cryptorchidism; and characteristic facies. Varied coagulation defects and lymphatic dysplasias are frequently observed. Congenital heart disease occurs in 50-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20-50% of individuals. Hypertrophic cardiomyopathy, found in 20-30% of individuals, may be present at birth or appear in infancy or childhood. Other structural defects frequently observed include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Ocular abnormalities, including strabismus, refractive errors, amblyopia, and nystagmus, occur in up to 95% of individuals. PTPN11, KRAS, SOS1 and RAF1 are the only genes known to be associated with Noonan syndrome. Molecular genetics testing identifies mutations in the PTPN11 gene in 50%; 3%-17% in the RAF1 gene; fewer than 5% in KRAS and about 10% in the SOS1 gene.
Links:
OMIM Entry - # 611553 - NOONAN SYNDROME 5; NS5
Orphanet- Noonan syndrome
OMIM Entry - - 164760 - V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1

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