Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
With this gene mutated, lysinuric protein intolerance occurs. The gene codes for an amino acid transporter.
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.
| 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 | 20 days | |
| Specimen type | genomic DNA |
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