Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Noonan Syndrome

Noonan Syndrome

Test Description:
Noonan syndrome (NS) is an autosomal dominant disorder with both clinical and genetic heterogeneity. It is characterized by short stature, dysmorphic facial features, and congenital heart detects (most commonly pulmonic stenosis and hypertrophic cardiomyopathy). The occurrence is 1:1000 to 1:2500 live births. Approximately 50% of NS cases are caused by mutations in the protein-tyrosine phosphatase, non-receptor type 11 gene (PTPN11). Full sequencing covering all 15 PTPN11 exons is provided to detect potential point mutations, small deletions and splicing mutations. Molecular testing of NS is used for confirmation of a clinical diagnosis, genetic counseling, and prenatal diagnosis.

1. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465 468.
2. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD (2002) PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555-1563.
3. Xiao W, Oefner PJ (2001) Denaturing high-performance liquid chromatography: a review. Hum Mut 17:439 474.
4. Lee et al. PTPN11 Analysis for the Prenatal Diagnosis of Noonan Syndrome in Fetuses with Abnormal Ultrasound Findings. Clin. Genet. 75:190-194, 2009.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.
Two confluent T-12.5 flask or more than 2 mg of direct CVS tissue are required for prenatal samples.

Shipping: Send at room temperature.

Turnaround Time: 4 weeks

CPT Codes: 83891, 83898x15, 83904x15, 83912

Consent Form: Noonan Testing Consent [PDF]

Requisition Form: General Test Requisition [PDF]

Additional Information: Noonan Syndrome Infosheet [PDF]

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.