Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutation in the WFS1 gene account for the autosomal recessive disorder Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38.
| 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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