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Acrofacial dysostosis 1, Nager type (sequence analysis of SF3B4 gene)
SF3B4
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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
CGC Reference
- 3053
Associated Tests
Genetic syndromes with skeletal involvement (NGS panel of 38 genes)
Nager syndrome (deletion/duplication analysis on SF3B4 gene)
Treacher-Collins syndrome and differential diagnosis (NGS panel of 8 genes)