Scientific background:

Summary: The protein product of the uromodulin gene is better known as Tamm-Horsfall protein, the most abundant protein excreted by normal urine. Although caused by mutations, the pathogenetic mechanism behind hyperuricemic nephropathy, medullary and glomerular cystic kidney diseases has yet to be elucidated.

Gene: The gene consists of 12 exons, of which 11 are translated.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		5 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: 

Bisceglia M et al. (2006) Renal cystic diseases: a review.
Fukuoka S et al. (1997) Assignment of the Tamm-Horsfall protein/uromodulin gene (Umod) to mouse chromosome bands 7F1-F2 and rat chromosome bands 1q36-->q37 by in situ hybridization.
Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
Jeanpierre C et al. (1993) Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11.
McBride MB et al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.
Muchmore AV et al. (1985) Uromodulin: a unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women.
Pennica D et al. (1987) Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein.
Pook MA et al. (1993) Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.
Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Stiburkova B et al. (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
Stiburkova B et al. (2000) Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.
TAMM I et al. (1952) A mucoprotein derived from human urine which reacts with influenza, mumps, and Newcastle disease viruses.
Turner JJ et al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Vyletal P et al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Yang H et al. (2004) Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy.