Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CYP24A1 gene encodes a member of the cytochrome P450 superfamily of enzymes. Its physiological role is degradation of 1,25-dihydroxyvitamin D3, calcitriol, the physiologically active form of vitamin D3. Conclusively, loss-of-function mutations cause symptoms resembling vitamin D hypervitamonosis, especially prominent after Vitamin D administration. Infantile hypercalcemia is an autosomal recessive disorder caused by mutations of the CYP24A1 gene.
| Research | 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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