Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The BBS4 gene is responsible for autosomal recessive Bardet-Biedl syndrome 4.
| Research | 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. |
Carmi R et al. (1995) Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. 
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| 2. |
Orphanet article Orphanet ID 118985
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| 3. |
NCBI article NCBI 585
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| 4. |
OMIM.ORG article Omim 600374
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| 5. |
Wikipedia article Wikipedia EN (BBS4)
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