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Encephalopathy lethal, due to defective mitochondrial peroxisomal fission (sequence analysis of DNM1L gene)
DNM1L
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Methodology

NGS


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, Metabolic Diseases


CGC Reference

- 2754




Associated Tests


Microcephaly and pontocerebellar hypoplasia (NGS panel for 53 genes)
Hereditary optic neuropathy (WES based NGS panel of 36 genes, including CNV analysis)
Hereditary optic neuropathy, including Leber's Hereditary Optic Neuropathy (WES based NGS panel of 36 genes, including CNV analysis and 3 frequent mutations of mtDNA)