Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The PAX6 gene encodes paired box 6, a transcription factor. Mutations in this gene cause autosomal dominant ocular disorders such as aniridia and Peter's anomaly. Aniridia associated with Wilms tumor is caused by microdeletions involving the neighboring WT1 gene.
| 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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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