Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
This gene encodes a member of the cytochrome P450 superfamily of enzymes. Mutations in this gene have been associated with autosomal recessive ocular disorders such as primary open angle congenital glaucoma type 3A and Peters anomaly.
| 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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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