SLC7A7 - Lysinuric protein intolerance (LPI)
This test is available for the following conditions:
- Conditions > Metabolic disorders > tyrosine hydroxylase deficiency of TH / Segawa syndrome
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
603593
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane