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Coffin-Lowry Syndrome, CLS |
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Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Coffin-Lowry Syndrome, CLS
|
RPS6KA3 Whole Gene Analysis
|
~35-40%
|
3 Months
|
|
|
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Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Coffin-Lowry Syndrome, CLS
|
303600
|
X-Linked Dominant
|
RPS6KA3 (RSK2)
|
300075
|
Xp22.2-p22.1
|
Ribosomal Protein S6 Kinase Alpha-3
|
|
DNA
|
CDS
|
Exon
|
|
111.27 kb
|
2223 bp
|
22
|
|
|
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 Thursday, 21 April 2011 10:44 |
