< Back to results
 
Kohlschutter Tonz syndrome (sequence analysis of ROGDI gene)
ROGDI
Request Now


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

- 2815




Associated Tests


Epileptic encephalopathy (WES based NGS panel of 137 genes, including CNV analysis)
Epilepsy (WES based NGS panel for 597 genes, including CNV analysis)
Epilepsy (WES based NGS panel for 596 genes, including CNV analysis)