The BBS4 gene is responsible for autosomal recessive Bardet-Biedl syndrome 4.
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. |
Carmi R et al. (1995) Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. |
2. |
Orphanet article Orphanet ID 118985 |
3. |
NCBI article NCBI 585 |
4. |
OMIM.ORG article Omim 600374 |
5. |
Wikipedia article Wikipedia EN (BBS4) |