|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Fructose Intolerance
|
ALDOB Mutation Analysis
|
% 90
|
2-3 Months
|
|
|
ALDOB Whole Gene Analysis
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Hereditary Fructose Intolerance
- Fructose-1-phosphate Aldolase
Deficiency
- Fructosemia
- Aldolase B Deficiency
|
229600
|
x
|
ALDOB
|
x
|
9q31.1
|
Fructose-Bisphosphate
|
|
DNA
|
CDS
|
Exon
|
|
14,45 kb
|
1095 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 Friday, 29 April 2011 16:28 |
