Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations of the PTH gene lead to dysfunction of the parathyroid hormone. The inheritance pattern is either dominant or recessive, depending on the mutation.
The secreted hormone consists of 84 amino acids.
The parathormone is produced by the parathyroid gland and stored in intracellular granules. The calcium sensing receptor (CASR) controls secretion in response to droping plasma calcium levels. A small amount of hormone seems to bypass this process of regulatad secretion.
The receptor of parathormone is an G-coupled membrane protein. Its physiological effects are increased bone resorption with a net release of phosphate and calcium, and in the kidneys increased calcitriol production (CYP27B1 activation), phosphate excretion, and calcium resorption.
The proteinis is inactivated by proteolysis though some cleavage products still excert biological activity.
| 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 | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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