NGS RASopathy Panel
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000593847.1
- Last updated: 2023-07-14
- Test version history
- 593847.1, last updated: 2023-07-14
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for RASopathy
Offered by Institute for Genomic Medicine (IGM) Clinical Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.NGS RASopathy Panel
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
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.nationwidechildrens.org/specialties/laboratory-services
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Establish or confirm diagnosis
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Noonan syndrome is caused by pathogenic/likely pathogenic variants in PTPN11(50% of clinically diagnosed patients), SOS1 (10%), KRAS (<5%), RAF1 (3%-17%), NRAS (1% or less), SHOC2 (1% or less), and RIT1 (5-10%). Costello syndrome is caused by pathogenic/likely pathogenic variants in HRAS (80%-90%) and KRAS(10%-15%). CFC syndrome is caused by pathogenic/likely pathogenic variants in BRAF (75%-80%), MAP2K1 (MEK1) and MAP2K2 (MEK2) (10%-15%), and KRAS (<5%). LEOPARD syndrome is caused by pathogenic/likely pathogenic variants in PTPN11 (90%) and RAF1 (<10%). Pathogenic/likely pathogenic variants in the CBL gene can cause Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia. Pathogenic/likely pathogenic variants in the NF1 gene can cause Neurofibromatosis-Noonan syndrome, while those in the SPRED1 gene can cause Legius syndrome; both of these disorders have features overlapping with Neurofibromatosis type 1 and Noonan syndrome.
- The RASopathies. - PubMed ID: 23875798
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