|
Fanconi-Bickel Syndrome, FBS |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Fanconi-Bickel Syndrome, FBS
|
GLUT2 Whole Gene Analysis
|
84%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Hepatorenal Glycogenosis with
Renal Fanconi Syndrome
- Hepatic Glycogenosis with
Fanconi Nephropathy
- Hepatic Glycogenosis with Amino
Aciduria And Glucosuria
- Fanconi Syndrome with Intestinal
Malabsorption and Galactose
Intolerance
- Pseudo-Phlorizin Diabetes
- Glycogenosis, Fanconi Type
- Glycogen Storage Disease XI
|
227810
|
Autosomal Recessive
|
GLUT2 (SLC2A2)
|
138160
|
3q26.2-q26.3
|
Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 2
|
|
DNA
|
CDS
|
Exon
|
|
30.00 kb
|
1575 bp
|
10
|
|
|
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, 25 April 2011 10:37 |
