|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Aarskog-Scott Syndrome
|
FGD1 Whole Gene Analysis
|
x
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Aarskog-Scott Syndrome
- Faciodigitogenital Syndrome
|
100050
|
X-Linked
|
FGD1
|
300546
|
Xp11.2
|
FYVE, RhoGEF and PH domain-containing protein 1
|
|
DNA
|
CDS
|
Ekzon
|
|
50.00 kb
|
2886 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, 31 يناير/كانون ثان 2011 15:10 |
