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Megalencephalic leukoencephalopathy with subcortical cysts (sequence analysis of MLC1 gene)
MLC1
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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

- 679




Associated Tests


Macrocephaly (NGS panel for 16 genes)
Megalencephalic leukoencephalopathy with subcortical cysts (deletion/duplication analysis on MLC1 gene)
Genetic carrier test (NGS panel of 101 genes)
Leukodystrophy and leukoencephalopathy (WES based NGS panel of 90 genes, including CNV analysis)
Epilepsy (WES based NGS panel for 597 genes, including CNV analysis)