Scientific background:

Summary: The gene that is widely known as GLUT2 encodes a glucose transporter especially abundant in endocrine cells. Mutation are assiciated with the recessive Fanconi-Bickel syndrome and a disposition to type 2 diabetes.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		medium
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	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: 

Tanizawa Y et al. (1994) Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients.
Mueckler M et al. (1994) A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.
Santer R et al. (2002) The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Santer R et al. (1997) Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
Müller D et al. (1997) Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.
Mueckler M et al. (1985) Sequence and structure of a human glucose transporter.
Santer R et al. (1998) Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism.
FANCONI G et al. (1949) [Not Available]
Santer R et al. (2002) The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Burwinkel B et al. (1999) A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Sanjad SA et al. (1993) Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
Akagi M et al. (2000) Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
Lee PJ et al. (1995) Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.
Berry GT et al. (1995) Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.
Sakamoto O et al. (2000) Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.