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.: GTR000514978.6
- Last updated: 2023-10-10
- 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 Familial aplasia of the vermis
Offered by Invitae
Methodology
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)
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.Test developed by laboratory (no manufacturer test name)
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods.
- 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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