Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The MKS1 gene encodes a protein that is localized to the basal body (kinetosome) and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in autosomal recessive disorders such as Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13.
| 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 | 25 days | |
| Specimen type | genomic DNA |
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