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Zellweger syndrome (NGS panel of 12 genes)
PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26,
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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)

- 45

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5229




Associated Tests


Fetal hydrops (WES based NGS panel for 66 genes, including CNV analysis)
Chromosome analysis of amniotic fluid
Chromosome analysis of fibroblasts
Chromosome analysis of stimulated cultures (blood)
Chromosome analysis of stimulated cultures (fetal blood)