Scientific background:

Summary: The gene encodes the receptor of the epidermal growth factor. Mutations can be found in nonsmall cell lung cancer and appear to influence responsiveness to tyrosine kinase inhibitors. A role in regulation of the magnesium channel TRPM6 has also been demonstrated, so it influences magnesium homeostasis.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		large
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Hotspot sequencing
		Turn-around time		15 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	Only in the region of interest, known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Multiplex Ligation-Dependent Probe Amplification
		Turn-around time		25 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Groenestege WM et al. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.
Tejpar S et al. (2007) Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: a prospective study.