TRPV4 - hereditary motor and sensory neuropathy type 2C
This test is available for the following conditions:
- Conditions > Neurological > Motor neuropathy
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