BBS1 gene
The BBS1 gene is responsible for autosomal recessive Bardet-Biedl syndrome 1.
Genetests:
| 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 |
Related Diseases:
References:
| 1. |
Leppert M et al. (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. [^] |
| 2. |
Orphanet article Orphanet ID 118975 [^] |
| 3. |
NCBI article NCBI 582 [^] |
| 4. |
OMIM.ORG article Omim 209901 [^] |
| 5. |
Wikipedia article Wikipedia EN (BBS1) [^] |
Update: April 29, 2019
