LARS2 - Perrault syndrome
This test is available for the following conditions:
- Conditions > Metabolic disorders > Perrault syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hearing impairment panel (including GJB2)
- Iron disorders panel
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Premature ovarian insufficiency panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604544
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane