Noonan Syndrome

Lab studies request form | CPT Codes/Price List (PDF)

Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, webbing of the neck, pectus excavatum/carinatum, cryptorchidism, characteristic facies, and cardiac defects including pulmonic stenosis and hypertrophic cardiomyopathy. It has recently been reported that approximately 50% of NS cases may be due to mutations in the PTPN11 gene that encodes the non-receptor protein tyrosine phosphatase SHP-2. We currently offer genomic sequencing for exons 2, 3, 4, 7, 8, 13. Testing these exons will identify greater than 95% of the mutations identified in PTPN11 in patients with Noonan Syndrome. Sequential testing is available. Analysis of exons 3, 8, and 13 will detect approximately 80% of PTPN11 mutations. Sequencing exons 2, 4, and 7 will detect an additional 15%.

Specimen requirements: 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer^TM tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer^TM tubes (yellow top) may be substituted. Prenatal studies require two confluent T-25 flasks containing amniocytes. A maternal blood sample is also requested for prenatal analysis.

Transport: Please contact the Molecular Diagnostic Laboratory coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx delivery is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on a Friday can be safely designated for Monday delivery.

Analysis standards: Analysis will be completed within 2 weeks from sample receipt. The quality and interpretation of test results are assessed by the laboratory director. Technical staff independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.

Reporting of Test Results: Test results and their interpretation will be mailed and/or faxed following completion of the test. Verbal reports will be telephoned to the person(s) requesting the test when an abnormal test result occurs. Consultation with the laboratory director is available and explanations of testing protocols will be supplied upon request.

Tier 1 (Exons 3, 8, 13):

CPT Codes: 83890, 83898 (x3), 83904 (x7), 83912

Tier 2 (Exons 2, 4, 7):

CPT Codes: 83898 (x3), 83904 (x4), 83912

Known Mutation:

CPT Codes: 83890, 83898, 83904 (x2), 83909, 83912