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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)
