Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes
- 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.: GTR000500398.4
- Last updated: 2018-08-08
- Test version history
- 500398.10, last updated: 2023-07-31
- 500398.9, last updated: 2023-07-17
- 500398.8, last updated: 2023-01-26
- 500398.7, last updated: 2022-08-18
- 500398.6, last updated: 2022-08-01
- 500398.5, last updated: 2018-09-28
- 500398.4, last updated: 2018-08-08
- 500398.3, last updated: 2015-01-16
- 500398.2, last updated: 2014-11-04
- 500398.1, last updated: 2013-12-02
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 Marfan syndrome
Offered by ARUP Laboratories, Molecular Genetics and Genomics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes (AORT PANEL)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
Collect: Lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B). Peripheral blood required.
Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL) Storage/Transport Temperature: Refrigerated. Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week;
Frozen: Unacceptable.
ARUP test-request forms are specific to each client laboratory or hospital and are thus not available on the ARUP website. However, they are available through the client hospital/laboratory sendout department.
ARUP patient history form http://ltd.aruplab.com/Tests/Pdf/96 is required for ARUP to perform the genetic testing and/or interpret patient results and should accompany each genetic test order.
Genetic counseling and informed consent are recommended for genetic testing. Consent forms for genetic testing may be found on the ARUP website at: http://www.aruplab.com/genetics/resources/consent
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.: http://www.aruplab.com/genetics/ordering
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
- DDeletion/duplication analysis
- Comparative Genomic Hybridization
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 2001961
- Custom Prenatal Testing, Order code: 2001980, commentsRequires knowledge of familial
- Custom mutation-specific/Carrier testing, Order code: 2001961, commentsA copy of the relative’s DNA laboratory result is REQUIRED for familial mutation testing
- Loeys et al., 2010The revised Ghent nosology for the Marfan syndrome.
- Orphanet, 2007Orphanet, Marfan Syndrome, 2007
- EuroGenetest, 2010Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
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.