The BBS5 gene is responsible for autosomal recessive Bardet-Biedl syndrome 5.
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. |
Li JB et al. (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. |
2. |
Orphanet article Orphanet ID 118987 |
3. |
NCBI article NCBI 129880 |
4. |
OMIM.ORG article Omim 603650 |
5. |
Wikipedia article Wikipedia EN (BBS5) |