|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Fabry Disease
|
GLA Whole Gene Analysis
|
98%
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Alpha-Galactosidase A
Deficiency
- Hereditary Dystopic Lipidosis
- GLA Deficiency
- Anderson-Fabry Disease
|
301500
|
X-Linked
|
GLA
|
300644
|
Xq22
|
Alfa-Galactosidase A
|
|
DNA
|
CDS
|
Exon
|
|
10.15 kb
|
1290 bp
|
7
|
|
|
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 Thursday, 21 April 2011 19:09 |
