|
|
Code
|
Test Name
|
Method
|
Mutation&Exon
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
20090
|
WAGR Syndrome
Wilms Tumor--Aniridia—Genitourinary Anomalies--Mental Retardation Syndrome
|
Chromosome Analysis (HRB)
|
Del 11p13
|
> 30%
|
3-4 Weeks
|
|
|
70220
|
FISH
|
WT1 Deletion
|
1 Month
|
|
|
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
194072
|
X
|
WT1
|
607102
|
11p13
|
x
|
|
DNA
|
CDS
|
Exon
|
|
47,76 Kb
|
1290 bp
|
9
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
FISH
+
Cytogenetic Analysis
|
BloodHep
|
3-5 ml
|
Green-top
|
2-8 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
AF
|
10-20 ml
|
Injector
|
|
CVS
|
10 mg
|
Transport Medium
|
|
| *Please contact with our lab for prenatal diagnosis |
|
|
آخر تحديث يوم الإثنين, 31 ماي/آيار 2010 15:32 |
