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Glycogen storage disease type XII (sequence analysis of ALDOA gene)
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Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- Rare diseases, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases

CGC Reference

- 2419

Associated Tests

RBC Enzymopathies (NGS panel for 14 genes)
Rhabdomyolysis and metabolic muscle diseases (NGS panel of 55 genes)
Hemolytic anemia (NGS panel of 33 genes)
Glycogen storage disease (NGS panel of 22 genes)