Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The BBS12 gene is responsible for autosomal recessive Bardet-Biedl syndrome 12.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 10 days | |
| Specimen type | genomic DNA |
| 1. |
Stoetzel C et al. (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 
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| 2. |
Orphanet article Orphanet ID 137646
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| 3. |
NCBI article NCBI 166379
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| 4. |
OMIM.ORG article Omim 610683
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| 5. |
Wikipedia article Wikipedia EN (BBS12)
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