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ICF syndrome (deletion/duplication analysis of DNMT3B gene)
DNMT3B
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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, Pediatrics, Primary immunodeficiency


CGC Reference

- 4417




Associated Tests


Syndromic combined immunodeficiencies (ICDs) or with associated symptoms (WES based NGS panel of 63 genes, including CNV analysis)
CID with associated or syndromic features – All subtypes (NGS panel of 46 genes and deletion of 22q11.2 by MLPA)