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Ataxia-oculomotor apraxia type 4 (sequence analysis of PNKP gene)
PNKP
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Methodology
NGS
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, Ophthalmology, Pediatrics
CGC Reference
- 4588
Associated Tests
Microcephaly and pontocerebellar hypoplasia (NGS panel for 53 genes)
Early infantile epileptic encephalopathy type 10 (sequence analysis of PNKP gene)
Epileptic encephalopathy, early infantile | Ataxia-oculomotor apraxia 4 (deletion/duplication analysis on PNKP gene)