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Aicardi-Goutieres syndrome, 2 (deletion/duplication analysis on RNASEH2B gene)
RNASEH2B
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Methodology

Deletion/duplication analysis by MLPA


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)

- 30

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5266




Associated Tests


Aicardi-Goutieres syndrome 2 (sequence analysis of RNASEH2B gene)
Aicardi-Goutieres syndrome (NGS panel of 7 genes)
Immunodeficiencies - auto-inflammatory diseases (WES based NGS panel of 34 genes, including CNV analysis)