|
Alzheimer Disease Type [1 - 3 - 4] Genetic Analysis |
|
Disease/Test Name
|
Gene Name & Method
|
Proportion in Early Onset Alzheimer Disease
|
Turn Around Time
|
Price
|
|
Alzheimer Disease Type 1, AD1
|
APP Sequence Analysis (Exon 16-17)
|
10-15%
|
1-2 Months
|
|
|
APP Whole Gene Sequencing
|
>15%
|
2-3 Months
|
|
|
Alzheimer Disease Type 3, AD3
|
PSEN1 Whole Gene Sequencing
|
30-70%
|
2-3 Months
|
|
|
Alzheimer Disease Type 4, AD4
|
PSEN2 Whole Gene Sequencing
|
< 5%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Early-Onset Familial Alzheimer
Disease (EOFAD) Type 1, AD1
|
x
|
Autosomal Dominant
|
APP
|
104760
|
21q21
|
Amyloid Beta A4 Protein
|
|
DNA
|
CDS
|
Exon
|
|
290,27 kb
|
2313 bp
|
18
|
|
- Early-Onset Familial Alzheimer
Disease (EOFAD) Type 3, AD3
|
607822
|
Autosomal Dominant
|
PSEN1
|
104311
|
14q24.3
|
Presenilin-1
|
|
DNA
|
CDS
|
Exon
|
|
83,93 kb
|
1404 bp
|
12
|
|
- Early-Onset Familial Alzheimer
Disease (EOFAD) Type 4, AD4
|
606889
|
Autosomal Dominant
|
PSEN2 (STM2)
|
600759
|
1q31-q42
|
Presenilin-2
|
|
DNA
|
CDS
|
Exon
|
|
24,84 kb
|
1347 bp
|
11
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
| |
|
|
Last Updated on Tuesday, 01 February 2011 17:16 |
