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Aspartylglucosaminuria (deletion/duplication analysis on AGA gene)
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Real-time quantitative PCR (RT-qPCR)

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, Metabolic Diseases, Dysmorphology

CGC Reference

- 4872

Associated Tests

Genetic carrier test (NGS panel of 101 genes)
Movement diseases (WES based NGS panel of 905 genes, including CNV analysis)
Lysosomal and peroxisomal diseases (NGS panel of 108 genes)
Skeletal Dysplasia (WES based NGS panel of 531 genes, including CNV analysis, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel of 833 genes, including CNV analysis)