NL
AGL - Glycogen storage disease type III
This test is available for the following conditions:
- Conditions > Congenital disorder of glycosylation > Glycogen storage disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
610860
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ALDOA - Glycogen storage disease type XII
This test is available for the following conditions:
- Conditions > Congenital disorder of glycosylation > Glycogen storage disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
103850
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PHKB - Glycogen storage disease type Ixb
This test is available for the following conditions:
- Conditions > Congenital disorder of glycosylation > Glycogen storage disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
172490
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PHKG2 - Glycogen storage disease type Ixc
This test is available for the following conditions:
- Conditions > Congenital disorder of glycosylation > Glycogen storage disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
172471
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PYGL - Glycogen storage disease type VI
This test is available for the following conditions:
- Conditions > Congenital disorder of glycosylation > Glycogen storage disease
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613741
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
