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Perrault syndrome 5 (sequence analysis of TWNK/C10orf2 gene)
TWNK/C10orf2
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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)

- 60

Specialties

- Rare diseases, Neurology / Neuropediatrics, Obstetrics / Gynecology /PND


CGC Reference

- 3921




Associated Tests


Neuropathy with sensory ataxic, dysarthria and progressive external opthalmoplegia (SANDO, sequence analysis of TWNK/C10orf2 gene)
Spinocerebellar ataxia infantile-onset (sequence analysis of TWNK/C10orf2 gene)