|
Frontotemporal Dementia With Parkinsonism 17 |
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Disease/Test Name
|
Gene Name & Method
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Diagnostic Value
|
Turn Around Time
|
Price
|
|
Frontotemporal Dementia With Parkinsonism 17
|
MAPT Whole Gene Analysis
|
25-40%
|
3-4 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Supranuclear Palsy, Progressive, 1, PSNP1
- Steele-Richardson-Olszewski Syndrome
|
601104
|
Autosomal Dominant
|
MAPT
|
157140
|
17q21.1
|
Microtubule Associated Protein Tau
|
|
- Parkinson-Dementia Syndrome
- Supranuclear Palsy, Progressive Atypical,
- Steele-Richardson-Olszewski Syndrome, Atypical
|
260540
|
DNA
|
CDS
|
Exon
|
|
134.00 kb
|
2277 bp
|
15
|
|
|
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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Last Updated on Tuesday, 18 October 2011 18:36 |
