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Glycogen storage disease type XIII (sequence analysis of ENO3 gene)
ENO3
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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

Specialties

- Rare diseases, Neurology / Neuropediatrics, Metabolic Diseases


CGC Reference

- 2420




Associated Tests


Rhabdomyolysis and metabolic muscle diseases (NGS panel of 55 genes)
Glycogen storage disease (NGS panel of 22 genes)