G6PC - Glycogen storage disease type Ia
This test is available for the following conditions:
- Conditions > Metabolic disorders > Smith-Lemli-Opitz syndrome
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613742
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
€ 725