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FMF, Familial Mediterranean Fever |
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Disease/Test Name
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Gen Adı & Yöntem
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Diagnostic Value
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Turn Around Time
|
Price
|
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Familial Mediterranean Fever, FMF
|
MEFV Mutation Analysis (12 Mutations)
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~ % 85
|
20 Days
|
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Familial Mediterranean Fever, FMF
|
MEFV Mutation Analysis (40 Mutations)
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~ % 85-90
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30 Days
|
|
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Familial Mediterranean Fever, FMF
|
MEFV Whole Gene Analysis
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> 90%
|
45 Days
|
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Disease Name (Synonym)
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Disease
OMIM
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Inheritance
|
Gene
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Gene
OMIM
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Locus
|
Protein
|
|
- Periodic Disease
|
249100
|
Autosomal Recessive
|
MEFV
|
608107
|
16p13
|
Pyrin
|
|
DNA
|
CDS
|
Exon
|
|
14,6 kb
|
2346 bp
|
10
|
|
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Sample
|
Volume
|
Tube
|
Transport
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Unacceptable Conditions
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Remarks
|
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BloodEDTA
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5 ml
|
Lavender-top
|
18-24 C0
|
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, 11 July 2011 10:28 |
