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 Mendelian inherited disorders (99.7% **)
  • WES muscle disorders (99.7% **)

** % 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




€ 673

Gene

CACNA1S - malignant hyperthermia susceptibility type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 673

CACNA1S - malignant hyperthermia susceptibility type 5



€ 673
Gene

RYR1 - malignant hyperthermia susceptibility type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1065

RYR1 - malignant hyperthermia susceptibility type 1



€ 1065

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 (95.7% **)
  • WES Mendelian inherited disorders (95.7% **)
  • WES mitochondrial disorders (95.7% **)
  • WES muscle disorders (95.7% **)

** % 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




€ 1065