|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Gaucher Disease
|
GBA Mutation Analysis (84GG, IVS2+1, N370S, 1297T, L444P, V394L)
|
%70
|
2 Months
|
|
|
GBA Whole Gene Analysis
|
~%99
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Glucocerebrosidase Deficiency
- Glucosylceramidase Deficiency
|
x
|
Autosomal Recessive
|
GBA
|
606463
|
1q22
|
Glucosylceramidase
|
|
- Gaucher Disease Type 1
|
230800
|
DNA
|
CDS
|
Exon
|
|
- Gaucher Disease Type 2
|
230900
|
6.78 kb
|
1611 bp
|
11
|
|
- Gaucher Disease Type 3
|
231000
|
|
- Gaucher Disease Type 3C
|
231005
|
|
|
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 Friday, 29 April 2011 17:36 |
