|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Albright Syndrome
|
GNAS Whole Gene Analysis
|
%80
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Pseudohypoparathyroidism
- Albright Hereditary
Osteodystrophy
|
103580
|
x
|
GNAS
|
139320
|
20q13.2
|
Guanine Nucleotide Binding Protein G(s) Subunit Alpha Isoforms Short
|
|
DNA
|
CDS
|
Exon
|
|
71.45 kb
|
738 bp
|
13
|
|
|
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 الخميس, 21 يوليوز/تموز 2011 16:18 |
