Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
This gene encodes a protein required for synthesis of a GPI anchor. GPI anchor is a glycolipid found on many blood cells which is involved in cell interactions. Mutations may cause the development of paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder. Truncating mutations are found in patients with x-linked congenital developmental disorders.
| 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 |
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