NL
BAG3 - myofibrillar myopathy
This test is available for the following conditions:
- Conditions > Neuromuscular > Myofibrillar myopathy
This product is also part of the following panels:
- WES dilated cardiomyopathy ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
* % 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:
603883
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
FLNC - myofibrillar myopathy
This test is available for the following conditions:
- Conditions > Neuromuscular > Myofibrillar myopathy
This product is also part of the following panels:
- WES aritmogene cardiomyopathy ¹ (100.0% *)
- WES arrhythmia and cardiac conduction disorders ¹ (100.0% *)
- WES dilated cardiomyopathy ¹ (100.0% *)
- WES fetal akinesia (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hypertrophic cardiomyopathy ¹ (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % 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:
102565
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
