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Ichthyosis, congenital, AR 11 (deletion/duplication analysis of ST14 gene)
ST14
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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 |
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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
- Dermatology, Rare diseases, Pediatrics
CGC Reference
- 5339
Associated Tests
Ichthyosis, congenital, AR 11 (sequence analysis of ST14 gene)
Adducted thumb-clubfoot syndrome (sequence analysis of CHST14 gene)
Arthrogryposis (NGS panel for 49 genes)
Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)