NL
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
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
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
