|
Connexin 32 Genetic Analysis |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Connexin 32 Genetic Analysis
|
GJB1Whole Gene Analysis
|
90%
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Charcot-Marie-Tooth, X-Linked Type 1
|
302800
|
X-Linked Dominant
|
GJB1 (CX32)
|
304040
|
Xq13.1
|
Gap Junction Beta-1 Protein
|
|
DNA
|
CDS
|
Exon
|
|
1.97 kb
|
852 bp
|
2
|
|
|
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 Thursday, 21 April 2011 10:49 |
