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Kniest dysplasia (sequence analysis of COL2A1 gene)
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Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- Rare diseases, Pediatrics, Dysmorphology

CGC Reference

- 98

Associated Tests

Achondrogenesis type 2 (sequence analysis of COL2A1 gene)
Stickler syndrome (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)