Invitae Joubert and Meckel-Gruber Syndromes 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.: GTR000514978.5
- Last updated: 2016-09-12
- 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 Joubert syndrome
Offered by Invitae
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Invitae Joubert and Meckel-Gruber Syndromes Panel
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Pre-symptomatic, Diagnosis, Therapeutic management
Click Indication tab for more information.
Tests can be ordered online or by submitting a paper 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.invitae.com/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
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- 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
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.Full gene sequencing and deletion/duplication analysis of targeted gene 000 Tests can be ordered online or by submitting a paper requisition form.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Genetic counseling
- Clinical Testing/Confirmation of Mutations Identified Previously
- ACMG ACT, 2011American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
- EuroGenetest, 2011Clinical utility gene card for: Joubert syndrome.
- OMIM
- View RPGRIP1L variations in ClinVar
- View TCTN3 variations in ClinVar
- View TMEM138 variations in ClinVar
- View TMEM237 variations in ClinVar
- View CPLANE1 variations in ClinVar
- View TMEM231 variations in ClinVar
- View TTC21B variations in ClinVar
- View TCTN2 variations in ClinVar
- View CEP41 variations in ClinVar
- RefSeqGene
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