- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Short stature, developmental delay, dysmorphic facial features, congenital heart disease, broad or webbed neck, superior pectus carinatum and inferior pectus excavatum, low set nipples, cryptorchidism, coagulation and lymphatic disorders.
Incidence: 1 in 1,000 to 1 in 2,500.
Inheritance: Autosomal dominant.
Cause of NS: Pathogenic mutations in PTPN11, SOS1, RAF1, KRAS and other unidentified genes.
Gene tested: SOS1.
Clinical Sensitivity: Approximately 10 percent of NS is due to SOS1 mutations.
Methodology: Bidirectional sequencing of the entire SOS1 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations and large deletions/duplications will not be detected. Mutations in genes, other than SOS1, will not be evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
|Component Test Code*||Component Chart Name|
|2004196||SOS1 FGS Specimen|
|2004197||Noonan Syndrome (SOS1) Seq Interp|
- SOS1 sequencing assay