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Cockayne syndrome type B (deletion/duplication analysis on ERCC6 gene)
ERCC6
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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, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 3699




Associated Tests


Arthrogryposis (NGS panel for 49 genes)
Progeroid syndromes (NGS panel for 12 genes)
Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Dystonia (WES based NGS panel of 117 genes, including CNV analysis)
Retinitis pigmentosa (WES based NGS panel of 190 gene, including CNV analysis)