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Alzheimer disease type 3 (sequence analysis of PSEN1 gene)
PSEN1
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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

CPT Codes

- 81405

Specialties

- Rare diseases, Neurology / Neuropediatrics


CGC Reference

- 138




Associated Tests


Alzheimer disease type 1, 3 e 4 (deletion/duplication analysis of APP, PSEN1 and PSEN2 genes)
Frontotemporal dementia (deletion/duplication in the PSEN1 gene)
Immunodeficiencies - defects of intrinsic and innate immunity (WES based NGS panel for 49 genes, including CNV analysis)
Frontotemporal dementia (NGS panel of 20 genes)
Alzheimer disease (disease exome based NGS panel for 14 genes)