|
Code
|
Test Name
|
Method
|
Mutation/Exon
|
Diagnostic Value
|
Time
|
Price
|
|
20010
|
Wolf-Hirschhorn Syndrome
Pitt-Rogers-Danks Syndrome
Monosomy 4p
4p- Syndrome
|
Cytogenetic Analysis
|
Del 4p16.3 Analysis
|
~60-70%
|
3-4 Weeks
|
|
|
70240
|
FISH
|
WHCR Deletion
|
>95%
|
1 Month
|
|
|
|
Disease OMIM
|
Inheritance
|
Critical Gene Region
|
Gene OMIM
|
Locus
|
Protein
|
|
194190
|
%75 de-novo
|
WHCR
|
x
|
4p16.3
|
x
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
FISH
+
Cytogenetic Analysis
|
BloodHep
|
3-5 ml
|
Green-top
|
18-24 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
A.F
|
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 15:31 |
