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Alzheimer Dementia, sporadic association marker PS2 |
AD4 |
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Signs/symptoms: |
Dementia, late onset, sporadic |
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Complications: |
Neuritic plaques and neurons with neurofibrillary tangles. |
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Early diagnosis/treatment: |
Yes |
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Association between a polymorphism in the human presenilin 2 (PSEN2) gene and Alzheimer's disease (AD). |
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Material required: |
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Blood tubes: |
EDTA whole blood (do not freeze, do not centrifugate) |
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Mouth brush: |
Yes |
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Chromosomal localization: |
1q31-q42 |
OMIM number: |
600759 |
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Presenilin 2 (association marker) |
PS2 |
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Gene regions tested: |
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Gene regions: |
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Amino acid positions: |
N141I |
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Nucleotide positions: |
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Test methods: |
Sequencing |
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TP REVAL: |
250 |
TP Value: |
0.9 |
CHF |
225.00 |
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Other europe: |
EUR |
160.00 |
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Other regions: |
USD |
call |
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| Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet. 1998;7:43-51. | |
| Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu YH, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995;269:973-977. | |
