|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Achondroplasia
|
FGFR3 Mutation Analysis
(G1138A & G1138C)
|
%99
|
20 Days
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Achondroplasia
|
100800
|
Autosomal Dominant
|
FGFR3
|
134934
|
4p16.3
|
Fibroblast Growth Factor Receptor 3
|
|
DNA
|
CDS
|
Ekzon
|
|
14,98 kb
|
2421 bp
|
15
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
Amniotic Fluid*
|
20 ml
|
Lavender-top
|
18-24 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient
|
|
BloodEDTA
|
5 ml
|
Injector
|
18-24 C0
|
|
| *Please contact with our lab for prenatal diagnosis |
|
|
آخر تحديث يوم الإثنين, 31 يناير/كانون ثان 2011 16:14 |
