Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TCTN1 gene encodes a membrane protein essential for cilia assambly. Mutations cause autosomal recessive Joubert syndrome 13.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 
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| 2. |
Srour M et al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
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| 3. |
Reiter JF et al. (2006) Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.
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| 4. |
NCBI article NCBI 79600
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| 5. |
OMIM.ORG article Omim 609863
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| 6. |
Orphanet article Orphanet ID 274226
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