Costello Syndrome
- 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.: GTR000260209.3
- Last updated: 2023-02-14
- Test version history
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 Costello syndrome
Offered by Molecular Diagnostics Lab
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Costello Syndrome
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
Patient samples should be shipped via overnight delivery at room temperature. Each specimen should be labeled with the patient’s name, date of birth, medical record number/unique identifier, and date of sample collection. No weekend or holiday deliveries.
Send specimens with a completed sample requisition form, otherwise, specimen processing may be delayed.
Specimen requirements: One tube of 3-5cc blood in an EDTA (purple top) tube.
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
- Bi-directional Sanger Sequence Analysis
- Applied BIosystems 3500 capillary sequencing instrument
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
- Confirmation of research findings
- Custom Prenatal Testing
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