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




€ 725

Gene

AGL - Glycogen storage disease type III

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

AGL - Glycogen storage disease type III



€ 725

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




€ 725
Gene

ALDOA - Glycogen storage disease type XII

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ALDOA - Glycogen storage disease type XII



€ 725

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




€ 725
Gene

PHKB - Glycogen storage disease type Ixb

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PHKB - Glycogen storage disease type Ixb



€ 725
Gene

PHKG2 - Glycogen storage disease type Ixc

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PHKG2 - Glycogen storage disease type Ixc



€ 725

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




€ 725
Gene

PYGL - Glycogen storage disease type VI

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PYGL - Glycogen storage disease type VI



€ 725

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




€ 725