The BBS2 gene is responsible for autosomal recessive Bardet-Biedl syndrome 2.
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. |
Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. |
2. |
Orphanet article Orphanet ID 118982 |
3. |
NCBI article NCBI 583 |
4. |
OMIM.ORG article Omim 606151 |
5. |
Wikipedia article Wikipedia EN (BBS2) |