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Zellweger syndrome (deletion/duplication analysis of PEX1 gene)
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Real-time quantitative PCR (RT-qPCR)

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


- Rare diseases, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 4404

Associated Tests

Zellweger syndrome (sequence analysis of PEX1 gene)
Fetal hydrops (WES based NGS panel of 66 genes, including CNV analysis)
Zellweger syndrome (NGS panel of 12 genes)
Peroxisome biogenesis disorder 14B (sequence analysis of PEX11B gene)
Zellweger syndrome (sequence analysis of PEX12 gene)