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Deafness autosomal dominant 13 | Deafness autosomal recessive 53 | Fibrochondrogenesis 2 | Stickler type 3 syndrome | Weissenbacher-Zweymuller syndrome (deletion/duplication analysis on COL11A2 gene)
COL11A2
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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
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

Specialties

- Rare diseases, Otorhinolaryngology, Pediatrics


CGC Reference

- 4846




Associated Tests


Vitreoretinopathy (NGS panel of 27 genes)
Stickler syndrome (NGS panel of 6 genes)
Spondylometaphyseal dysplasia (NGS panel of 27 genes)
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)
Deafness autosomal dominant 13 | Deafness autosomal recessive 53 | Fibrochondrogenesis 2 | Stickler type 3 syndrome | Weissenbacher-Zweymuller syndrome (sequence analysis of COL11A2 gene)