Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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)
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
