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Galactosemia type III (deletion/duplication analysis on GALE gene)
GALE
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Methodology

Real-time quantitative PCR (RT-qPCR)


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, Gastroenterology, Neurology / Neuropediatrics, Pediatrics, Metabolic Diseases


CGC Reference

- 4876




Associated Tests


Galactosemia type III (sequence analysis of GALE gene)
Hypoglycemia (WES based NGS panel of 62 genes, including CNV analysis)