|
Dentatorubral-Pallidoluysian Atrophy, DRPLA |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Dentatorubral-Pallidoluysian Atrophy, DRPLA
|
CAG Repeat Analysis in ATN1
|
~100%
|
1-2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Myoclonic Epilepsy With Choreoathetosis
- Naito-Oyanagi Disease, NOD
- Haw River Syndrome, HRS
- Ataxia, Chorea, Seizures and Dementia
|
125370
|
Autosomal Dominant
|
ATN1
|
607462
|
12p13.31
|
Atrophin 1
|
|
DNA
|
CDS
|
Exon
|
|
14.00 kb
|
x
|
10
|
|
|
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.
|
|
| |
|
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آخر تحديث يوم الخميس, 21 أبريل/نيسان 2011 16:52 |
