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Facioscapulohumeral Muscular Dystrophy 1A, FSHMD1A |
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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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Facioscapulohumeral Muscular Dystrophy 1A, FSHMD1A
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FRG1 Mutation Analysis
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95%
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1-2 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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- FSH Muscular Dystrophy
- Landouzy-Dejerine Muscular Dystrophy
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158900
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Autosomal Dominant
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FRG1 (FSG1)
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601278
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4q35
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FSHD Region Gene 1
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DNA
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CDS
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Exon
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22.38 kb
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777 bp
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9
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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 Friday, 29 April 2011 15:05 |
