|
van der Woude syndrome | Popliteal pterygium syndrome (sequence analysis of IRF6 gene)
IRF6
|
Request Now |
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
CPT Codes
- 81479
Specialties
- Rare diseases, Pediatrics, Dysmorphology
CGC Reference
- 1417
Associated Tests
Cleft lip with or without cleft palate (deletion/duplication analysis on IRF6 gene)
Van Der Woude syndrome (deletion/duplication analysis on IRF6 gene)
Autosomal dominant popliteal pterygium syndrome (deletion/duplication analysis on IRF6 gene)
Multiple pterygium syndrome (NGS panel of 14 genes)