Scientific background:

Summary: Mutations in the growth hormone gene might be responsible for hereditary growth retardation.

Clinical signs: Mutations that affect secretion or function of the hormone result in dwarfism due to GH deficiency. Furthermore polymorphisms in this gene have been associated with risk to hypertension and stroke.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	All 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: 

Horan M et al. (2006) Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.
Lindholm J et al. (2006) Growth hormone: historical notes.
Walenkamp MJ et al. (2006) Genetic disorders in the growth hormone - insulin-like growth factor-I axis.
Dattani MT et al. (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?