Scientific background:

Summary: The sodium bicarbonate cotransporter encoded by the gene is located in the proximal tubules of the kidney. Dysfunction leads to proximal renal tubular acidosis.

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: 

Demirci FY et al. (2006) Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).
Horita S et al. (2005) Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
Dinour D et al. (2004) A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
Igarashi T et al. () Molecular basis of proximal renal tubular acidosis.