|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
FGFR2 Genetic Analysis
|
FGFR2 Whole Gene Analysis
|
Apert Syndrome
|
%100
|
1-2 Months
|
|
|
Beare-Stevenson Syndrome
|
<%100
|
|
CrouzonSyndrome
|
%100
|
|
FGFR2-Related Isolated Corona Synostosis
|
%100
|
|
Jackson-Weiss Syndrome
|
%100
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Apert Syndrome
|
101200
|
Autosomal Dominant
|
FGFR2
|
176943
|
10q26
|
Fibroblast Growth Factor Receptor 2
|
|
- Jackson-Weiss Syndrome
|
123150
|
|
- Crouzon Syndrome
|
123500
|
DNA
|
CDS
|
Exon
|
|
- Beare-Stevenson Syndrome
|
123790
|
120,06 kb
|
2463 bp
|
18
|
|
|
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.
|
|
| |
|
|
آخر تحديث يوم الإثنين, 25 أبريل/نيسان 2011 12:10 |
