The BBS10 gene is responsible for autosomal recessive Bardet-Biedl syndrome 10.
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. |
Stoetzel C et al. (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. |
2. |
NCBI article NCBI 79738 |
3. |
OMIM.ORG article Omim 610148 |
4. |
Orphanet article Orphanet ID 118978 |
5. |
Wikipedia article Wikipedia EN (BBS10) |