|
ICF syndrome (deletion/duplication analysis of DNMT3B gene)
DNMT3B
|
Request Now |
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)