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Familial Alzheimer Dementia, early onset, Type 4 (PS2)

Neurology 10.021

Familial Alzheimer Dementia, early onset, Type 4 (PS2)

AD4

Signs/symptoms: Dementia, early onset, familial, autosomal dominant.
Complications: Amyloidosis
Early diagnosis/treatment: Yes
Alzheimer disease, type 4. Dementia and cardiomyopathy, dilated.

Material required:

Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: No
Chromosomal localization: 1q31-q42 OMIM number: 606889

Presenilin 2 (main mutations)

PS2

Gene regions tested:

Gene regions:
Amino acid positions: specific mutations
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:

8820.00 8811.01 8819.01
  TP REVAL: 1500 TP Value: 0.9 CHF 1350.00
Other europe: EUR 900.00
Other regions: USD call

References:

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.

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