Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Epidermal growth factor is a membrane bound hormone that regulates magnesium excretion in the distal convoluted tubule. A mutation might cause autosomal recessive renal hypomagnesemia 4.
| 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 |
| 1. |
Groenestege WM et al. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. 
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| 2. |
Orphanet article Orphanet ID 201089
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| 3. |
NCBI article NCBI 1950
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| 4. |
OMIM.ORG article Omim 131530
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| 5. |
Wikipedia article Wikipedia EN (Epidermal_growth_factor)
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