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ADAMTS13 Genetic Analysis |
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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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ADAMTS13 Genetic Analysis
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ADAMTS13 Whole Gene Analysis
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?
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2-3 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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- Thrombotic Thrombocytopenic Purpura,
Congenital; TTP
- Microangiopathic Hemolytic Anemia
- Familial Thrombotic Microangiopathy
- Upshaw-Schulman Syndrome; USS
- Schulman-Upshaw Syndrome
- Deficiency Of Upshaw Factor
- Microangiopathic Hemolytic Anemia, Congenital
- Thrombotic Thrombocytopenic Purpura,
Familial
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274150
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Autosomal
recessive
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ADAMTS13
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604134
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9q34.2
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ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 13
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DNA
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CDS
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Exon
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37.39 kb
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4284 bp
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29
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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, 17 October 2011 18:04 |
