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Epilepsy, progressive myoclonic 2B (Lafora) (sequence analysis of NHLRC1 gene)
NHLRC1
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Methodology

Sanger sequencing


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, Pediatrics


CGC Reference

- 2816




Associated Tests


Epilepsies (deletion/duplication on CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3 and NHLRC1 genes)
Hereditary dementias (NGS panel of 44 genes)