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Aromatase Deficiency Syndrome, AROD |
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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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Aromatase Deficiency
Syndrome, AROD
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CYP19A1 Mutation Analysis (1558C>T)
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x
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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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- Aromatase Deficiency Syndrome, AROD
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107910
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Autosomal Dominant
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CYP19A1
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107910
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15q21.1
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Aromatase/Estrogen Synthetase
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DNA
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CDS
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Exon
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129.12 kb
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1512 bp
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11
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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 Wednesday, 13 April 2011 18:13 |