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Epilepsies (deletion/duplication on CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3 and NHLRC1 genes)
CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3, NHLRC1
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Methodology

Deletion/duplication analysis by MLPA


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
Fetal DNA ≥ 20 µL [25 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
Amniotic fluid ≥ 5 mL Sterile tube Room temp. 4
Chorionic villus sampling (CVS) ≥ 30 mg Sterile tube + transport medium Room temp. 4
Cell culture 2 x T25 confluent Sterile tube + transport medium Room temp. 2
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)

- 30

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 2038




Associated Tests


Hereditary dementias (NGS panel of 44 genes)
Nocturnal frontal lobe epilepsy (NGS panel of 8 genes)
Epileptic encephalopathy, early infantile 2 (sequence analysis of KCNQ3 gene)
Long QT syndrome 1 (LQT1, sequence analysis of KCNQ1 gene)
Long QT syndrome 1 (LQT1, deletion/duplication analysis on KCNQ1 gene)