Gene

ALG14 - Myasthenic syndrome congenital

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

ALG14 - Myasthenic syndrome congenital



€ 725

ALG14 - Myasthenic syndrome congenital

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Myasthenic syndrome congenital

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 612866
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

CHAT - congenital presynaptic myasthenic syndrome type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

CHAT - congenital presynaptic myasthenic syndrome type 6



€ 435

CHAT - congenital presynaptic myasthenic syndrome type 6

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Myasthenic syndrome congenital

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 118490
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

GFPT1 - Congenital myasthenia

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

GFPT1 - Congenital myasthenia



€ 725

GFPT1 - Congenital myasthenia

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Myasthenic syndrome congenital

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 138292
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725