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Frontotemporal dementia (NGS panel of 20 genes)
CHCHD10, CHMP2B, CSF1R, DCTN1, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, NOTCH3, OPTN, PRNP, PSEN1, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, VCP.
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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)

- 45

Specialties

- Rare diseases, Neurology / Neuropediatrics


CGC Reference

- 5223




Associated Tests


Hereditary dementias (NGS panel of 44 genes)
Hereditary dementias (WES based NGS panel of 44 genes, including analysis of CNVs)
Movement diseases (WES based NGS panel of 929 genes, including CNV analysis)
Movement diseases (WES based NGS panel of 905 genes, including CNV analysis)
Amyotrophic lateral sclerosis/motor neuron disease (WES based NGS panel of 29 genes, including CNV analysis)