|
Androgen Receptor Gene Analysis |
|
|
Code
|
Test Name
|
Method
|
Mutation/ Exon
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
40070
|
Androgen Receptor Gene Analysis
|
Sequencing
|
AR Sequence Alterations
|
CAIS (Complete Androgen Insensitivity Syndrome)
|
>95%
|
1-2 Months
|
|
|
PAIS( Partial Androgen Insensitivity Syndrome)
|
<50%
|
|
MAIS( Mild Androgen Insensitivity Syndrome)
|
Unknown
|
|
|
Disease
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Testicular Feminization
- Androgen Insensitivity Syndrome
|
300068
|
X-linked Recessive
|
AR
|
313700
|
Xq11-q12
|
Androgen Receptor
|
|
DNA
|
CDS
|
Exon
|
|
180.24 Kb
|
2763 bp
|
8
|
|
|
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.
|
|
| |
|
|
Last Updated on Wednesday, 13 April 2011 15:52 |
