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Alpha Thalassemia X-related Mental Retardation Syndrome |
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Disease/Test Name
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Gene Name & Method
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Diagnostic Value
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Turn Around Time
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Price
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Alpha Thalassemia X-related Mental Retardation Syndrome
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ATRX Whole Gene Analysis
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%95
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3-4 Months
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ATRX Sequencing Analysis
(Exon 7-8 & Exon17-20)
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%85
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3-4 Months
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Disease Name (Synonym)
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Disease OMIM
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Inheritance
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Gene
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Gene OMIM
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Locus
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Protein
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- Alpha Thalassemia X-Related
Mental Retardation Syndrome
- ATRX Syndrome
- XLMR-Hypotonic Face Syndrome
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301040
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X-Related
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ATRX
|
300032
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Xq13
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Transcriptional Regulator ATRX
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DNA
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CDS
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Exon
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280.00 kb
|
7365 bp
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36
|
|
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Sample
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Volume
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Tube
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Transport
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Unacceptable Conditions
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Remarks
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BloodEDTA
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5 ml
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Lavender-top
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18-24 C0
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Frozen, Hemolyzed Specimens
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The sample should be send with written consent of the patient.
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Last Updated on Monday, 31 January 2011 18:17 |
