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Malignant hyperthermia susceptibility (sequence analysis of RYR1 gene)
RYR1
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Methodology

NGS


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

CPT Codes

- 81408

Specialties

- Rare diseases


CGC Reference

- 619




Associated Tests


Central core myopathy (sequence analysis of RYR1 gene)
Central core myopathy (deletion/duplication analysis on RYR1 gene)
Malignant hyperthermia (deletion/duplication in the RYR1 gene)
Congenital muscular dystrophies (WES based NGS panel of 46 genes, including CNV analysis)
Malignant hyperthermia (NGS panel of 3 genes)