Overview
Test order codeHelpLaboratory's order or catalog code for the test (used in the order requisition form).: NSRGG
Noonan Syndrome and Related Panel (NSRGG)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
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https://www.mayocliniclabs.com/test-catalog/Overview/617393#Specimen
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.mayocliniclabs.com/order-tests/index.html
Specimen source
Amniotic fluid
Chorionic villi
Peripheral (whole) blood
- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
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information.
Establish or confirm diagnosis
Citations- Noonan syndrome: clinical features, diagnosis, and management guidelines. - PubMed ID:
20876176
- Noonan syndrome and clinically related disorders. - PubMed ID:
21396583
- Roberts AE: Noonan syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2007. Updated December 16, 2021. Accessed February 8, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1124/
Predictive risk information for patient and/or family members
Citations- Noonan syndrome: clinical features, diagnosis, and management guidelines. - PubMed ID:
20876176
- Noonan syndrome and clinically related disorders. - PubMed ID:
21396583
- Roberts AE: Noonan syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2007. Updated December 16, 2021. Accessed February 8, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1124/
Not provided
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.