Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Epidermal growth factor

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.

Genetests:

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

Related Diseases:

Hypomagnesemia with normocalciuria
EGF

References:

1.

Groenestege WM et al. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.

external link
2.

Orphanet article

Orphanet ID 201089 external link
3.

NCBI article

NCBI 1950 external link
4.

OMIM.ORG article

Omim 131530 external link
5.

Wikipedia article

Wikipedia EN (Epidermal_growth_factor) external link
Update: Aug. 14, 2020
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