|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Episodic Ataxia Type 2
|
CACNA1A Whole Gene Analysis
|
> %80
|
3-4 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- CACNA1A-Related Episodic
Ataxia Type 2
|
108500
|
Autosomal Dominant
|
CACNA1A
|
601011
|
19p13
|
Voltage-Dependent P/Q Type Calcium Channel Subunit Alpha-1A
|
|
DNA
|
CDS
|
Exon
|
|
299.50 kb
|
6786 bp
|
47
|
|
|
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 19:04 |
