NL
CACNA1S - malignant hyperthermia susceptibility type 5
This test is available for the following conditions:
- Conditions > Neuromuscular > Hyperthermia, malignant
This product is also part of the following panels:
- WES fetal akinesia (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:
114208
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RYR1 - malignant hyperthermia susceptibility type 1
This test is available for the following conditions:
- Conditions > Neuromuscular > Hyperthermia, malignant
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES mitochondrial disorders (99.9% *)
- WES muscle disorders (99.9% *)
* % 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:
180901
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
