The BBS1 gene is responsible for autosomal recessive Bardet-Biedl syndrome 1.
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 |
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) |