Gene

CLCN1 - autosomal dominant myotonia congenita

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 789

CLCN1 - autosomal dominant myotonia congenita



€ 789

CLCN1 - autosomal dominant myotonia congenita

This test is available for the following conditions:

  • Conditions > Neuromuscular > Myotonia congenita

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: 118425
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 789
Gene

CLCN1 - autosomal recessive myotonia congenita

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 789

CLCN1 - autosomal recessive myotonia congenita



€ 789

CLCN1 - autosomal recessive myotonia congenita

This test is available for the following conditions:

  • Conditions > Neuromuscular > Myotonia congenita

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: 118425
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 789
Gene

SCN4A - atypical myotonia congenita, acetazolamide-responsive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 800

SCN4A - atypical myotonia congenita, acetazolamide-responsive



€ 800

SCN4A - atypical myotonia congenita, acetazolamide-responsive

This test is available for the following conditions:

  • Conditions > Neuromuscular > Myotonia congenita

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: 603967
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 800