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Alzheimer disease type 1, 3 e 4 (deletion/duplication analysis of APP, PSEN1 and PSEN2 genes)
APP, PSEN1, PSEN2
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Methodology

Deletion/duplication analysis by MLPA


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

- 4241




Associated Tests


Alzheimer disease (disease exome based NGS panel for 14 genes)
Hereditary dementias (NGS panel of 44 genes)
Alzheimer disease type 1 (sequence analysis of APP gene)
Alzheimer disease type 3 (sequence analysis of PSEN1 gene)
Alzheimer disease type 4 (sequence analysis of PSEN2 gene)