my CGC
< Back to results
 
Malignant hyperthermia (deletion/duplication in the RYR1 gene)
RYR1
Request Now


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
Fetal DNA ≥ 20 µL [25 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
Amniotic fluid ≥ 5 mL Sterile tube Room temp. 4
Chorionic villus sampling (CVS) ≥ 30 mg Sterile tube + transport medium Room temp. 4
Cell culture 2 x T25 confluent Sterile tube + transport medium Room temp. 2
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)

- 30

Specialties

- Cardiology, Neurology / Neuropediatrics


CGC Reference

- 4670




Associated Tests


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