Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TMEM138 gene encodes a transmembraneous protein involved in cilia assambly. Mutations cause autosomal recessive Joubert syndrome 2.
| 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. |
Lee JH et al. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 
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| 2. |
Orphanet article Orphanet ID 292990
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| 3. |
NCBI article NCBI 51524
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| 4. |
OMIM.ORG article Omim 614459
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| 5. |
Wikipedia article Wikipedia EN (TMEM138)
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