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.: GTR000521412.2
- Last updated: 2022-12-23
- 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 Clinical Genomics Unit
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.
When genetic diagnosis is indicated by meeting the clinical criteria required and / or requested by the received genetic counselling, the procedure to follow is as follows: send a 25-ml blood sample during 24h post-extraction at room temperature, frozen lymphocites or 8µg DNA together with order form at laboratory address. Previous contact with Dra. Castellanos is higlhy recommended.
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
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- ESequence analysis of select exons
- Bi-directional Sanger Sequence Analysis
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
Establish or confirm diagnosis
- Costello Syndrome - PubMed ID: 20301680
- https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1507
Guidance for management
- Costello Syndrome - PubMed ID: 20301680
- https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1507
Reproductive decision-making
- Costello Syndrome - PubMed ID: 20301680
- https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1507
Predictive risk information for patient and/or family members
- Costello Syndrome - PubMed ID: 20301680
- https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1507
Lifestyle planning
- Costello Syndrome - PubMed ID: 20301680
- https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1507
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.1)Once we will have the necessary documentation (order form, informed consent and pedigree for familiar cases), the physician / researcher applicant will receive an e-mail confirming the cost of the study to be performed. 2) In case of compliance, the physician / investigator applicant must respond to this e-mail, which will act as an undertaking to pay the requested study. 3) Once the acceptance is available, the study of the gene requested will be start. 4) Once the genetic analysis will be finished, the physician / researcher courier applicant will receive a report on the results of tests. At this time, the bill of genetic study will be issued, referring it to the address shown in the Billing section of the order form. Should it be necessary to specify in the bill the order number, line costs or other requirements, must be given in accordance email if they have not been mentioned in the order form. 000 When genetic diagnosis is indicated by meeting the clinical criteria required and / or requested by the received genetic counselling, the procedure to follow is as follows: send a 25-ml blood sample during 24h post-extraction at room temperature, frozen lymphocites or 8µg DNA together with order form at laboratory address. Previous contact with Dra. Castellanos is higlhy recommended.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Custom Sequence Analysis
- Data Storage and Backup
- Result interpretation
- Custom Prenatal Testing
- Custom mutation-specific/Carrier testing
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.