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Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene)
VCP
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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

- 4418




Associated Tests


Body myopathy with Paget disease and frontotemporal dementia (sequence analysis of VCP gene)
Amyotrophic lateral sclerosis 14 (sequence analysis of VCP gene)
Limb-girdle muscular dystrophies (NGS panel of 42 genes)
Amyotrophic lateral sclerosis/motor neuron disease (WES based NGS panel for 29 genes, including CNV analysis)
Frontotemporal dementia (NGS panel of 20 genes)