Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The BBS2 gene is responsible for autosomal recessive Bardet-Biedl 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 |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 
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| 2. |
Orphanet article Orphanet ID 118982
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| 3. |
NCBI article NCBI 583
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| 4. |
OMIM.ORG article Omim 606151
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| 5. |
Wikipedia article Wikipedia EN (BBS2)
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