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Birt-Hogg-Dube Syndrome 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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Birt-Hogg-Dube Syndrome
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FLCN Sequence Analysis
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~88%
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3-4 Months
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FLCN Deletion/Duplication Analysis
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x
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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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- Birt-Hogg-Dube Syndrome, BHD
- Fibrofolliculomas with Trichodiscomas and
Acrochordons
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135150
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Autosomal Dominant
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FLCN
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607273
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17p11.2
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Folliculin
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DNA
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CDS
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Exon
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24.00 kb
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x
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14
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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 Saturday, 16 April 2011 17:14 |
