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Amyotrophic lateral sclerosis/motor neuron disease (WES based NGS panel of 29 genes, including CNV analysis)
ALS2, ANG, AR, CCNF, DCTN1, FIG4, FUS, HNRNPA1, KIF5, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, SPG11, SPG20, SQSTM1,TARDBP, TBK1, UBQLN2, UNC13A, VAPB, VCP, VEGFA.
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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


CGC Reference

- 5593




Associated Tests


Frontotemporal dementia (NGS panel of 20 genes)
Hereditary dementias (NGS panel of 44 genes)
Spinal muscular atrophy (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)