Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Microdeletion in this gene have been identified to cause Pseudohypoparathyroidism type IB by impaired impriting of the promotor region of the GNAS1 gene.
The gene spans about 30kb. Two splice variant with 9 and 8 translated exons are indentified.
| 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 | Methylation test |
| 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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