|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Dystonia 1, DYT 1
|
TOR1A Whole gene analysis
|
100%
|
2-3 Months
|
|
|
TOR1A Mutation Analysis (904_906 delGAG)
|
~>99%
|
1-2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Dystonia Musculorum Deformans 1
- Early-Onset Torsion Dystonia, EOTD
- Oppenheim's Dystonia
|
128100
|
Autosomal Dominant
|
TOR1A (DYT1)
|
605204
|
9q34
|
Torsin Family 1, Member A
|
|
DNA
|
CDS
|
Exon
|
|
11.22 kb
|
?
|
5
|
|
|
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 17:28 |
