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. |
2. |
Orphanet article Orphanet ID 137646 |
3. |
NCBI article NCBI 166379 |
4. |
OMIM.ORG article Omim 610683 |
5. |
Wikipedia article Wikipedia EN (BBS12) |