NL
ENO3 - Glycogen storage disease type XIII
This test is available for the following conditions:
- Conditions > Metabolic disorders > 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
- 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:
131370
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GAA - Glycogen storage disease type II
This test is available for the following conditions:
- Conditions > Metabolic disorders > 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:
606800
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GYS1 - Glycogen storage disease type 0, muscle
This test is available for the following conditions:
- Conditions > Metabolic disorders > 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
- 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:
138570
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GYS2 - Glycogen storage disease type 0, liver
This test is available for the following conditions:
- Conditions > Metabolic disorders > 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:
138571
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LDHA - Glycogen storage disease type XI
This test is available for the following conditions:
- Conditions > Metabolic disorders > 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
- Muscle disorders panel
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
150000
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PFKM - Glycogen storage disease type VII
This test is available for the following conditions:
- Conditions > Metabolic disorders > 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
- 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:
610681
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PGAM2 - Glycogen storage disease type X
This test is available for the following conditions:
- Conditions > Metabolic disorders > 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
- 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:
612931
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PHKA2 - Glycogen storage disease type Ixa
This test is available for the following conditions:
- Conditions > Metabolic disorders > Glycogen storage disease
This product is also part of the following panels:
- 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:
300798
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
