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Alzheimer Dementia, sporadic, association marker APOE |
AD2 |
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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 the apolipoprotein E4 variant (C112R) and sporadic 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: |
19q13.2 |
OMIM number: |
107741 |
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Apolipoprotein E (main plus additional mutations) |
APOE |
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Gene regions tested: |
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Gene regions: |
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E4-Variants |
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Amino acid positions: |
C112R, R158C, R136S, A106V |
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Nucleotide positions: |
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Test methods: |
Restriction Fragment Length |
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|
|
|
|
| 8820.00 |
8811.01 |
8818.00 |
|
|
8055.00 |
|
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| |
TP REVAL: |
200 |
TP Value: |
0.9 |
CHF |
180.00 |
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Other europe: |
EUR |
130.00 |
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Other regions: |
USD |
call |
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| Corder EH, Saunders AM, Risch NJ, Strittmatter WJ, Schmechel DE, Gaskell PC Jr, Rimmler JB, Locke PA, Conneally PM, Schmader KE, et al. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet. 1994;7:180-184. | |
| Corder, E. H.; Saunders, A. M.; Strittmatter, W. J.; Schmechel, D. E.; Gaskell, P. C.; Small, G. W.; Roses, A. D.; Haines, J. L.; Pericak-Vance, M. A. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261: 921-923, 1993. | |
