Spinal muscular atrophy

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

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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

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