Scientific background:

Summary: The gene product is a hormone sensing transcription factor. Diseases associated with mutations include colon cancer, glioblastoma, obesity, diabetes, and lipodystrophy.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		20 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		Hotspot sequencing
		Turn-around time		5 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		Fragment analysis
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	Only the target mutation is detected all other genetic variations, though possibly important they may be, are missed.
	clinical test	Method		Multiplex Ligation-Dependent Probe Amplification
		Turn-around time		20 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only

Literature: 

Zeggini E et al. (2005) Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples.
Hansen SK et al. (2005) Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.
Doney AS et al. (2004) Cardiovascular risk in type 2 diabetes is associated with variation at the PPARG locus: a Go-DARTS study.
Doney AS et al. (2004) Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes with susceptibility to Type 2 diabetes.