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Zellweger syndrome (deletion/duplication analysis of PEX1 gene)
PEX1
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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 |
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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
- 4404
Associated Tests
Zellweger syndrome (sequence analysis of PEX1 gene)
Fetal hydrops (WES based NGS panel for 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)