Transcription factor HNF1beta

This transcription factor plays a key role in pancreatic beta cell function and kidney development, so mutations in HNF1B cause maturity-onset diabetes of the young type 5 (MODY5) and kidney abnormalities.

Phenotype

Mutations of the transcription factor HNF1beta result in hereditary diabetes (MODY5), various urogenital malformations, and hypomagnesemia.

Genetests:

Clinic	Method	Carrier testing
	Turnaround	5 days
	Specimen type	genomic DNA

Clinic	Method	Massive parallel sequencing
	Turnaround	25 days
	Specimen type	genomic DNA

Clinic	Method	Genomic sequencing of the entire coding region
	Turnaround	20 days
	Specimen type	genomic DNA

Clinic	Method	Multiplex Ligation-Dependent Probe Amplification
	Turnaround	25 days
	Specimen type	genomic DNA

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