|
Galactosemia Genetic Analysis |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Galactosemia
|
GALT Whole Gene Analysis
|
%91
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
-Classic Galactosemia
-GALT Deficiency
- Galactose-1-Phosphate
Uridyltransferase Deficiency
|
230400
|
Autosomal Recessive
|
GALT
|
606999
|
9p13
|
Galactose-1-Phosphate Uridylyltransferase
|
|
DNA
|
CDS
|
Exon
|
|
3.94 kb
|
1140 bp
|
11
|
|
|
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.
|
|
| |
|
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Last Updated on Friday, 29 April 2011 17:24 |
