|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Alexander Disease
|
GFAP Whole Gene Analysis
|
97%
|
3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
Alexander Disease
|
203450
|
Autosomal Dominant
|
GFAP (DT1P1A4)
|
137780
|
17q21
|
Glial Fibrillary Acidic Protein, Astrocyte
|
|
DNA
|
CDS
|
Exon
|
|
9,88 kb
|
1299 bp
|
9
|
|
|
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 Monday, 31 January 2011 16:55 |
