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Ataxia with oculomotor apraxia (sequence analysis of APTX gene)
APTX
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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

- 5571




Associated Tests


Recessives ataxias (deletion/duplication analysis on SETX, APTX and FXN genes)
Coenzyme Q10 deficiency (NGS panel for 8 genes)
Dystonia (WES based NGS panel of 117 genes, including CNV analysis)
Hypercholesterolemia, familial (NGS panel of 15 genes)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)