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Achondrogenesis type 2 (sequence analysis of COL2A1 gene)
COL2A1
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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
CPT Codes
- 81479
Specialties
- Rare diseases, Pediatrics, Dysmorphology
CGC Reference
- 96
Associated Tests
Stickler syndrome (sequence analysis of COL2A1 gene)
Kniest dysplasia (sequence analysis of COL2A1 gene)
Spondyloepiphyseal dysplasia congenita (sequence analysis of COL2A1 gene)
Epiphyseal dysplasia multiple (sequence analysis of COL2A1 gene)
Stickler syndrome type 1 (deletion/duplication analysis on COL2A1 gene)