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:

  • Amyotrophic lateral sclerosis, ALS panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Muscle disorders panel
  • Neuropathies panel¹

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

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
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:

  • Epilepsy panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel
  • Neurological pain disorders panel¹
  • Neuropathies panel¹

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:

  • Fetal akinesia panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel
  • Neurological pain disorders panel¹
  • Neuropathies panel¹
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis

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