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Myoclonic epilepsy, infantile, familial (sequence analysis of TBC1D24 gene)
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Sanger sequencing

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- Rare diseases, Neurology / Neuropediatrics, Pediatrics

CGC Reference

- 2813

Associated Tests

DOOR syndrome (sequence analysis of TBC1D24 gene)
Deafness, autosomal recessive 86 and autosomal dominant 65 | Myoclonic epilepsy, infantile, familial | Epileptic encephalopathy 16 |DOORS syndrome (deletion/duplication analysis on TBC1D24 gene)