Scientific background:

Summary: With this gene mutated, lysinuric protein intolerance occurs. The gene codes for an amino acid transporter.

Gene: The gene SLC7A7, formerly known as y(+)LAT1, is located on chromosome 14 (14q11.2), spans about 46kb, and consists of 10 exons, 9 of which are translated.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		little
		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.
	research test	Method		Gene dosage measurements
		Turn-around time		25 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	Of the gene rearrangements, this method is useful to detect large deletions or duplications.

Literature: 

Palacín M et al. (2004) Lysinuric protein intolerance: mechanisms of pathophysiology.
Esposito V et al. (2006) Growth hormone deficiency in a patient with lysinuric protein intolerance.
Tanner L et al. (2006) Hazards associated with pregnancies and deliveries in lysinuric protein intolerance.
Sperandeo MP et al. (2005) Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.