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Kniest dysplasia (deletion/duplication analysis of COL2A1 gene)
COL2A1
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Methodology

Deletion/duplication analysis by MLPA


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)

- 30

Specialties

- Rare diseases, Pediatrics, Dysmorphology


CGC Reference

- 4174




Associated Tests


Achondrogenesis type 2 (sequence analysis of COL2A1 gene)
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)