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:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Muscle disorders panel

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

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

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:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel

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

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