Gene

RYR1 - congenital myopathy with fibre type disproportion

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1065

RYR1 - congenital myopathy with fibre type disproportion



€ 1065

RYR1 - congenital myopathy with fibre type disproportion

This test is available for the following conditions:

  • Conditions > Neuromuscular > Congenital myopathy

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: 180901
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1065
Gene

SELENON (SEPN1) - congenital fiber-type disproportion

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

SELENON (SEPN1) - congenital fiber-type disproportion



€ 410

SELENON (SEPN1) - congenital fiber-type disproportion

This test is available for the following conditions:

  • Conditions > Neuromuscular > Congenital myopathy

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

Method

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

OMIM: 606210
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410
Gene

TPM3 - congenital myopathy with fiber type disproportion

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 378

TPM3 - congenital myopathy with fiber type disproportion



€ 378

TPM3 - congenital myopathy with fiber type disproportion

This test is available for the following conditions:

  • Conditions > Neuromuscular > Congenital myopathy

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: 191030
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 378