Gene

CHCHD10 - spinal muscular atrophy, Jokela type

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

CHCHD10 - spinal muscular atrophy, Jokela type



€ 344

CHCHD10 - spinal muscular atrophy, Jokela type

This test is available for the following conditions:

  • Conditions > Neurological > Spinal muscular atrophy

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: 615903
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

DYNC1H1 - autosomal dominant muscular atrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 732

DYNC1H1 - autosomal dominant muscular atrophy



€ 732

DYNC1H1 - autosomal dominant muscular atrophy

This test is available for the following conditions:

  • Conditions > Neurological > Spinal muscular atrophy

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: 600112
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 732
Gene

TRPV4 - scapuloperoneal spinal muscular atrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 427

TRPV4 - scapuloperoneal spinal muscular atrophy



€ 427

TRPV4 - scapuloperoneal spinal muscular atrophy

This test is available for the following conditions:

  • Conditions > Neurological > Spinal muscular atrophy

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: 605427
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 427