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Amyotrophic lateral sclerosis, susceptibility to (sequence analysis of NEFH gene)
NEFH
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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


CGC Reference

- 2746




Associated Tests


Amyotrophic lateral sclerosis/motor neuron disease (WES based NGS panel of 29 genes, including CNV analysis)
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)