Scientific background:

Summary: The gene product of NEUROD1 plays a role as a transcription factor in insulin secretion of beta cells by binding to its promotor's E-box. Mutations cause autosomal dominant diabetes MODY6.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		25 working days
		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: 

Malecki MT et al. (1999) Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.
Fajans SS et al. (2001) Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.