Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The BBS1 gene is responsible for autosomal recessive Bardet-Biedl syndrome 1.
| 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 | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Leppert M et al. (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. 
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| 2. |
Orphanet article Orphanet ID 118975
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| 3. |
NCBI article NCBI 582
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| 4. |
OMIM.ORG article Omim 209901
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| 5. |
Wikipedia article Wikipedia EN (BBS1)
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